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Дисертації з теми "Lysosomal storage diseases"

Автор: Grafiati

Опубліковано: 4 червня 2021

Оновлено: 25 липня 2025

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1

Roy, Elise. "Cell disorders in lysosomal storage diseases." Phd thesis, Université René Descartes - Paris V, 2012. http://tel.archives-ouvertes.fr/tel-00683248.

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Mucopolysaccharidosis type IIIB (MPSIIIB) is a lysosomal storage disease (LSD) characterized by accumulation of heparan sulfate oligosaccharides (HSO), which results in progressive mental retardation, neurodegeneration and premature death in children. The underlying mechanisms are poorly understood. Coming to a better understanding of the pathophysiology of MPSIIIB has become a necessity to assess the efficacy of gene therapy treatment regarding loss of neuronal plasticity, and to define the best conditions for treatment. To address the link between HSO accumulation and downstream pathological

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2

Chen, Chun-Wu. "Defective iron homeostasis in lysosomal storage diseases." Thesis, University of Oxford, 2013. http://ora.ox.ac.uk/objects/uuid:5127c241-be64-4990-bef5-70e15d391394.

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Niemann-Pick type Cl (NPC1) disease is a neurodegenerative lysosomal storage disorder characterized by the accumulation of multiple lipids in the late endosome/lysosomal system and reduced acidic store calcium levels. Since the lysosomal system is involved in regulating aspects of transition metal ion homeostasis and its intracellular compartmentalization, we have investigated whether there are metal ion metabolism defects and haematological abnormalities in NPC1 disease. We have identified multiple haematological changes, including decreased haematocrit, haemoglobin and mean corpuscular haemo

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3

Ross, Colin J. D. "Immuno-isolation gene therapy for lysosomal storage disease /." *McMaster only, 2001.

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4

Rigal, Nathalie [Verfasser]. "Improving enzyme replacement therapy for lysosomal storage diseases / Nathalie Rigal." Berlin : Medizinische Fakultät Charité - Universitätsmedizin Berlin, 2018. http://d-nb.info/115576093X/34.

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5

Lewis, Martin David. "Human lysosomal sulphate transport." Title page, contents and abstract only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phl6752.pdf.

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Addendum inserted at back Includes bibliographical references (leaves 266-287). 1. Introduction -- 2. Materials and general methods -- 3. Characterisation and partial purification of the lysosomal sulphate transporter -- 4. Identification of proteins involved in lysosomal sulphate transport -- 5. The relationship between a sulphate anion transporter family and the lysosomal sulphate transporter -- 6. Investigation of sulphate transport in human skin fibroblasts -- 7. Concluding remarks

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6

Kanju, Patrick M. Suppiramaniam Vishnu. "Synaptic glutamate receptor dysfunction in tissue and animal models of Alzheimer's disease." Auburn, Ala., 2005. http://repo.lib.auburn.edu/2005%20Summer/doctoral/KANJU_PATRICK_11.pdf.

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7

Champigny, Marc J. Igdoura Suleiman. "Transcriptional regulation of neu1 expression: Implications for lysosomal storage disease /." *McMaster only, 2005.

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8

Maalouf, Katia Ghandour [Verfasser]. "Role of lipid rafts in the pathophysiology of lysosomal storage diseases / Katia Ghandour Maalouf." Hannover : Technische Informationsbibliothek und Universitätsbibliothek Hannover (TIB), 2012. http://nbn-resolving.de/urn:nbn:de:gbv:089-7259318337.

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9

Ghandour, Maalouf Katia [Verfasser]. "Role of lipid rafts in the pathophysiology of lysosomal storage diseases / Katia Ghandour Maalouf." Hannover : Technische Informationsbibliothek und Universitätsbibliothek Hannover (TIB), 2012. http://d-nb.info/1029515352/34.

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10

Gray, James Andrew Russell. "Modulating the heat-shock response : a potential therapy for lysosomal storage disorders." Thesis, University of Oxford, 2014. https://ora.ox.ac.uk/objects/uuid:d9b746c9-9026-4a6e-97b5-00bb848100d7.

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Lysosomal storage disorders (LSDs) comprise a broad disease group of inherited metabolic disorders, the majority of which are associated with CNS pathology, significant disability and reductions in life expectancy. LSDs are caused by mutations in genes encoding proteins critical for the correct functioning of lysosomal homeostasis. The disruption of lysosomal homeostasis results in the abnormal accumulation of lysosomal content, initiating intracellular pathological events, including calcium dysregulation and lysosomal membrane permeablisation (LMP) affecting cell function and inducing cellula

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11

Gliddon, Briony Lee. "Enzyme replacement therapy in a murine model of mucopolysaccharidosis type IIIA /." Title page, contents and abstract only, 2002. http://web4.library.adelaide.edu.au/theses/09PH/09phg5595.pdf.

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12

Crawley, Allison Catherine. "Enzyme replacement therapy in a feline model of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phc9107.pdf.

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13

Li, Yijun. "Detection of enzyme deficient genetic diseases by electrospray ionization mass spectrometry /." Thesis, Connect to this title online; UW restricted, 2004. http://hdl.handle.net/1773/11577.

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14

Kim, A. Rang M. S. "Discontinuing Enzyme Replacement Therapy in Patients with Lysosomal Storage Diseases due to Significant Clinical Decline." University of Cincinnati / OhioLINK, 2014. http://rave.ohiolink.edu/etdc/view?acc_num=ucin1396522371.

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15

Yogalingam, Gouri. "Molecular characterisation of feline MPS VI and evaluation of gene therapy /." Title page, contents and abstract only, 1998. http://web4.library.adelaide.edu.au/theses/09PH/09phy54.pdf.

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16

Freeman, Craig. "The lysosomal degradation of heparan sulphate : a comparative study of the physical and catalytic properties of the heparan sulphate degradative enzymes /." Title page, contents and abstract only, 1991. http://web4.library.adelaide.edu.au/theses/09PH/09phf855.pdf.

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17

Zarrinkalam, Krystyna. "Characterisation of osteoblast function in a feline model of mucopolysaccharidosis type VI." Title page, contents and introduction only, 2001. http://web4.library.adelaide.edu.au/theses/09PH/09phz38.pdf.

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Анотація:

Addenda slip inserted in back. Includes bibliographical references (leaves 178-231). To further the understanding of the molecular mechanisms that contribute to the skeletal pathology of mucopolysaccharidosis type VI and to investigate the production of organic matrix by mucopolysaccharidosis VI osteoblasts

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18

Maghe, Clément. "Elucidating the Vulnerability of Glioblastoma Stem-like Cells to Lysosomal Dysfunctions." Electronic Thesis or Diss., Nantes Université, 2023. http://www.theses.fr/2023NANU1035.

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Le glioblastome (GB) est le cancer du système nerveux central de l’adulte le plus commun et le plus meurtrier. Malgré un traitement invasif de résection chirurgicale suivi de séances de radio- et de chimiothérapies, la survie des patients atteints difficilement les 15 mois. Cette agressivité est considérée comme liée notamment à la présence de cellules souches cancéreuses appelées cellules de type souche de glioblastome, ou GSCs. Ces cellules, impliquées dans l’initiation, la croissance, et la récurrence du GB, sont considérées comme des cibles préférentielles. Les lysosomes jouent un rôle cri

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19

Harvey, John Steven. "Metachromatic leukodystrophy : the role of non-pathogenic sequence variants in the causation of disease /." Title page, contents and abstract only, 1996. http://web4.library.adelaide.edu.au/theses/09PH/09phh341.pdf.

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20

Gomez, Grau Marta. "Models and therapeutic approaches for Niemann-Pick (A/B and C) and other lysosomal storage disorders." Doctoral thesis, Universitat de Barcelona, 2015. http://hdl.handle.net/10803/385854.

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Анотація:

Lysosomal storage disorders (LSDs) are a group of more than 50 different genetic disorders due to the lack of degradation of substrates within lysosomes. Most of them are caused by mutations in genes coding for lysosomal hydrolases. LSDs are mainly inherited in an autosomal recessive manner. Although in the last 25 years there has been much effort and progress to develop therapies aiming the correction of metabolic defects for these diseases, yet there is no effective therapy for many of them, and patients are exclusively treated with supportive care. For several non-neurological LSDs, en

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21

Zaccariotto, Eva. "The blood-brain barrier and San Filippo Syndrome: a model for pathophisiology studies of CNS in lysosomal storage diseases." Doctoral thesis, Università degli studi di Padova, 2009. http://hdl.handle.net/11577/3426008.

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The lysosomal storage diseases (LSDs) are a large and heterogeneous group of disorders resulting from defects in various aspects of lysosomal function. They commonly afflict infants and young children and mostly involve pathology of the brain which is currently untreatable when it’s present. All animals with a well developed central nervous system (CNS) have a blood-brain barrier (BBB) that largely isolates the brain from alterations in the composition of the blood stream and the continuous changes that take place in these general body fluids. This BBB also impedes the global CNS delivery of m

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22

Litjens, Tom. "The molecular genetics of mucopolysaccharidosis type VI /." Title page, contents and abstract only, 1994. http://web4.library.adelaide.edu.au/theses/09PH/09phl776.pdf.

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23

White, Elaine Joanna. "Evaluation of receptor-mediated gene transfer using an integrin-targeting vector as a potential form of therapy for lysosomal storage diseases." Thesis, University College London (University of London), 2000. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.340643.

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24

Gerber, Scott Anthony. "Direct profiling of multiple enzymes in human cell lysates by affinity chromatography/electrospray ionization mass spectrometry : application to clinical enzymology /." Thesis, Connect to this title online; UW restricted, 2001. http://hdl.handle.net/1773/8490.

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25

Weismann, Cara M. "Approaches and Considerations Towards a Safe and Effective Adeno-Associated Virus Mediated Therapeutic Intervention for GM1-Gangliosidosis: A Dissertation." eScholarship@UMMS, 2014. http://escholarship.umassmed.edu/gsbs_diss/767.

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GM1 gangliosidosis is a lysosomal storage disorder caused by a deficiency in the catabolizing enzyme β-galactosidase (βgal). This leads to accumulation of GM1-ganglioside (GM1) in the lysosome inducing ER stress and cell death. GM1 gangliosidosis is primarily a disorder of the central nervous system (CNS) with peripheral organ involvement. In this work we report two major findings, 1) systemic treatment of GM1 gangliosidosis with an adenoassociated virus (AAV9) encoding mouse-βgal (mβgal) in a GM1 gangliosidosis mouse model (βGal-/-), and 2) an investigation into an intracranial injection of a

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26

Da, Silva Afitz. "Glycovecteurs pour le ciblage thérapeutique d'une maladie rare lysosomale : la maladie de Pompe." Thesis, Montpellier, 2017. http://www.theses.fr/2017MONTT001.

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Sur la cinquantaine de maladies rares lysosomales, seules 8 peuvent être traitées par enzymothérapie substitutive avec plus ou moins d’efficacité. Il y a donc un réel besoin de développer de nouveaux traitements mais aussi de mieux caractériser les causes de ces maladies. Durant cette thèse nous nous sommes intéressés à la maladie de Pompe qui résulte de l’absence ou de la carence en enzyme lysosomale alpha-glucosidase acide (GAA) responsable de la dégradation du glycogène en glucose dans de nombreux tissus. Actuellement seule la forme infantile de cette maladie peut être traitée alors que la

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27

Leishman, Alison Jane. "Harnessing the immunomodulatory capacity of dendritic cells differentiated from human induced pluripotent stem cells and the therapeutic potential of dendritic cell-derived exosomes for the treatment of lysosomal storage diseases." Thesis, University of Oxford, 2015. https://ora.ox.ac.uk/objects/uuid:97f6791f-ff69-4645-9a3d-2ff23ce69529.

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Lysosomal storage diseases (LSDs) are a collection of disorders that feature the pathological accumulation of substrate frequently due to an enzymatic defect within the lysosomes. The most effective treatment regime for LSDs is enzyme replacement therapy. However, this treatment has faced two main challenges which have limited its treatment efficacy and clinical impact. One challenge constitutes the potential immunogenicity of the replaced enzyme, which can lead to the induction of an antibody response that prevents its effective targeting. Therefore, this thesis investigated the potential to

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28

Leishman, Alison Jane. "Harnessing the immonomodulatory capacity of dendritic cells differentiated from human induced pluripotent stem cells and the therapeutic potential of dendritic cell-derived exosomes for the treatment of lysosomal storage diseases." Thesis, University of Oxford, 2014. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.711748.

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29

Wang, Ding. "Application of mass spectrometry in enzyme deficiency assay for newborn screening purpose /." Thesis, Connect to this title online; UW restricted, 2006. http://hdl.handle.net/1773/11557.

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30

Bender, Fernanda. "Triagem neonatal para mucopolissacaridose tipo VI (Síndrome de Maroteux-Lamy) em uma região com alta incidência da doença." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2011. http://hdl.handle.net/10183/48987.

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A mucopolissacaridose tipo VI (MPS VI) ou Síndrome de Maroteaux-Lamy, é uma doença autossômica recessiva causada pela deficiência da enzima lisossomal Nacetilgalactosamina- 4-sulfatase (ARSB), a qual resulta no armazenamento lisossômico de dermatan sufato em vários tecidos e órgãos, dando origem a uma condição clínica de espectro variável, desde formas mais graves até formas mais atenuadas. O acúmulo de substrato não degradado causa um importante comprometimento ósseo, problemas respiratórios, baixa estatura e outros problemas, afetando os olhos, o coração e outros órgãos. Embora a síndrome de

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31

SAMARANI, MAURA. "CELL DAMAGE INDUCED BY LYSOSOMAL IMPAIRMENT: STUDY OF THE ROLE OF PLASMA MEMBRANE SPHINGOLIPIDS." Doctoral thesis, Università degli Studi di Milano, 2017. http://hdl.handle.net/2434/482301.

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Lysosomes are the principal site of the catabolism of sphingolipids, a class of bioactive lipids mainly associated with the external leaflet of cell plasma membrane. Several lines of evidence support a direct correlation between modifications in sphingolipid pattern and the activation of specific signaling pathways, including apoptosis and autophagy. Loss-of-function mutations in genes coding for lysosomal enzymes involved in sphingolipid catabolism result in severe clinical manifestations called sphingolipidoses. These pathologies belong to the group of Lysosomal Storage Diseases and are char

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32

Mason, Lyndel Ann. "Expression variation in lysosomal storage disorder genes." Thesis, Queensland University of Technology, 2006. https://eprints.qut.edu.au/16240/1/Lyndel_Mason_Thesis.pdf.

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Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively. They are lysosomal storage disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement resulting in high morbidity and mortality. The overall aim of this study is to elucidate the genetic component/s of high ASA and GBA enzyme activity in normal healthy individuals with the ultimate goal of using this information to produce greater protein activity from a recombinant protein. A wide variati

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33

Mason, Lyndel Ann. "Expression variation in lysosomal storage disorder genes." Queensland University of Technology, 2006. http://eprints.qut.edu.au/16240/.

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Анотація:

Metachromatic leukodystrophy (MLD) and Gaucher disease (GD) are caused by a deficiency of arylsulphatase A (ASA) and b-glucocerebrosidase (GBA), respectively. They are lysosomal storage disorders with a heterogeneous clinical spectrum encompassing visceral, skeletal and neurologic involvement resulting in high morbidity and mortality. The overall aim of this study is to elucidate the genetic component/s of high ASA and GBA enzyme activity in normal healthy individuals with the ultimate goal of using this information to produce greater protein activity from a recombinant protein. A wide variati

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34

Rouvière, Laura. "Transfert de gènes dans un modèle murin de la maladie de Sandhoff à l'aide d'un vecteur scAAV9 : intérêt d'une double voie d'administration ?" Thesis, Sorbonne Paris Cité, 2017. http://www.theses.fr/2017USPCB052/document.

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La maladie de Sandhoff est une maladie génétique rare due à des mutations du gène HEXB. Elle se caractérise par un double déficit en hexosaminidase A (αβ) et B (ββ), responsable d’une accumulation de ganglioside GM2 essentiellement dans le système nerveux central (SNC). Cliniquement, la maladie débute dès les premiers mois de vie et le décès survient vers l’âge de 3 ans. A ce jour, aucun traitement n’est disponible pour cette maladie. Le modèle murin obtenu par invalidation du gène Hexb est un bon outil pour le développement d’approches thérapeutiques, car il présente un phénotype proche de la

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35

Salgues, Frédéric. "Ciblage des lysosomes pour la thérapie enzymatique substitutive ou pour la thérapie photodynamique." Thesis, Montpellier 2, 2011. http://www.theses.fr/2011MON20148.

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Le récepteur du mannose-6-phosphate cation indépendant (RM6P-CI) permet l'endocytose puis le transfert de molécules porteuses du marqueur M6P vers les lysosomes. Pour améliorer à la fois l'affinité pour le RM6P-CI et la stabilité du résidu M6P, nous avons procédé à la synthèse d'analogues isostères stables et fonctionnalisés en position anomère pour permettre un couplage efficace à des molécules d'intérêt thérapeutique. Tout d'abord un couplage à des enzymes recombinantes humaines a été réalisé. Le remodelage de la partie oligosaccharidique de l'enzyme lysosomale GAA, dont la déficience est re

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36

Munõz, Rojas Maria Verônica. "Tratamento inovador da compressão medular com reposição enzimática intratecal nas mucopolissacaridoses tipos I e VI : relato de uma série de casos." reponame:Biblioteca Digital de Teses e Dissertações da UFRGS, 2010. http://hdl.handle.net/10183/29034.

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As mucopolissacaridoses apresentam uma história natural progressiva, causada por defeitos no metabolismo dos glicosaminoglicanos. Frequentemente graves, as mucopolissacaridoses encurtam de forma considerável a expectativa de vida do paciente. Apesar de que em muitos casos a função intelectual é normal, morbidade neurológica considerável pode ser causada por compressão medular secundária ao acúmulo de glicosaminoglicanos nas meninges. O tratamento deste problema pode requerer a descompressão medular através de laminectomia cervical. A terapia de reposição enzimática endovenosa, para o tratament

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37

Manwaring, V. J. "The identification of potential diagnostic biomarkers amd disease mechanisms in lysosomal storage disorders." Thesis, University College London (University of London), 2014. http://discovery.ucl.ac.uk/1427920/.

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by a deficiency of the enzyme alpha-galactosidase A. The resultant progressive intracellular accumulation of the glycosphingolipids globotriaosylceramide (Gb3) and globotriaosylsphingosine (lyso-Gb3) are the source of a variety of clinical consequences. Biomarkers capable of detecting FD at an early stage of disease progression and that enable monitoring of response to treatment are required urgently. Using label-free quantitative proteomics two potential biomarkers, proactivator polypeptide and ganglioside GM2 activator prote

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38

Boomkamp, Stephanie. "Lysosomal storage and pathogenesis in a novel in vitro cellular model of Sandhoff disease." Thesis, University of Oxford, 2009. http://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.496832.

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39

Rockwell, Hannah. "AAV-Mediated Gene Delivery Corrects CNS Lysosomal Storage in Cats with Juvenile Sandhoff Disease." Thesis, Boston College, 2013. http://hdl.handle.net/2345/3929.

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Анотація:

Thesis advisor: Thomas N. Seyfried<br>Sandhoff Disease (SD) is an autosomal recessive neurodegenerative disease caused by a mutation in the Hexb gene for the β-subunit of β-hexosaminidase A, resulting in the inability to catabolize ganglioside GM2 within the lysosomes. SD presents with an accumulation of GM2 and its asialo derivative GA2 primarily in the CNS. Myelin-enriched glycolipids, cerebrosides and sulfatides, are also decreased in SD corresponding with dysmyelination. At present, no treatment exists for SD. Previous studies have shown the therapeutic benefit of using adeno-associated vi

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40

Haslett, Luke. "Lysosomal storage disorders and neurodegenerative disease : related mechanisms of pathogenesis and identification of novel therapeutic targets." Thesis, Cardiff University, 2015. http://orca.cf.ac.uk/89191/.

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Анотація:

Lysosomal storage disorders (LSDs) are rare diseases caused by inherited mutations in genes coding for proteins of the endolysosomal system. The lysosome is an organelle responsible for the degradation of dysfunctional organelles and for the catabolism, and subsequent recycling, of macromolecules within the cell. When this process becomes defective the substrates of lysosomal catabolism accumulate; these can include lipids, proteins, polysaccharides, nucleotides and diverse combinations of all three. The phenotypic spectrum of these diseases in isolation, and even more so as a group, is extrem

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41

Hermans, Monique Maria Petra. "Structural and functional analysis of lysosomal [alpha]-glucosidase in relation to glycogen storage disease type II." [S.l.] : Rotterdam : [The Author] ; Erasmus University [Host], 1993. http://hdl.handle.net/1765/13746.

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42

Wolf, Heike [Verfasser], Torben [Akademischer Betreuer] Lübke, and von Mollard Gabriele [Akademischer Betreuer] Fischer. "The lysosomal storage disease fucosidosis: towards enzyme replacement therapy / Heike Wolf ; Torben Lübke, Gabriele Fischer von Mollard." Bielefeld : Universitätsbibliothek Bielefeld, 2016. http://d-nb.info/1118688295/34.

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43

Fletcher, Jessica Louise. "Pathophysiology of canine fucosidosis." Thesis, The University of Sydney, 2013. http://hdl.handle.net/2123/10420.

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Pathophysiology of Canine Fucosidosis by Jessica L Fletcher Understanding processes involved in the onset and progression of fucosidosis, a childhood neurodegenerative lysosomal storage disease, is critical to the development of effective treatment. Fucosidosis is caused by deficiency of the lysosomal hydrolase α-L-fucosidase due to inherited mutations in the FUCA1 gene. Canine fucosidosis, the only preserved animal model, was used to characterise preclinical pathophysiology, to establish potential markers of disease progression and test their capacity to measure responses to early therapy. S

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44

Mütze, Ulrike, Friederike Bürger, Jessica Hoffmann, et al. "Multigene panel next generation sequencing in a patient with cherry red macular spot." Universitätsbibliothek Leipzig, 2017. http://nbn-resolving.de/urn:nbn:de:bsz:15-qucosa-217944.

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Background: Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or atypical phenotypes. We report on the diagnostic work-up in a boy with sialidosis type I, presenting initially with marked cherry red macular spots but non-specific urinary oligosaccharide patterns and unusually mild excretion of bound sialic acid. Methods: Biochemical, enzymatic and genetic tests we

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45

Del, Grosso Ambra. "Nanoparticle-mediated enzyme replacement therapy and autophagy modulation in Krabbe disease." Doctoral thesis, Scuola Normale Superiore, 2020. http://hdl.handle.net/11384/85899.

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46

Zancan, Ilaria. "Understanding bone alterations in Gaucher disease using the zebrafish animal model: development of a novel pathogenetic paradigm for lysosomal storage disorders." Doctoral thesis, Università degli studi di Padova, 2015. http://hdl.handle.net/11577/3424231.

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Lysosomal storage disorders (LSDs) are rare inherited metabolic disorders due to a deficiency of specific lysosomal enzymes or transporters. Almost 50 genetic disorders caused by deficiencies of lysosomal and non-lysosomal proteins are known nowadays, collectively with an incidence of ~1/7000 newborns in the worldwide population. Dysfunctions of such lysosomal enzymes or transporters can lead to several consequences that include incomplete degradation and/or recycling of intracellular molecules. Despite lysosomal proteins are present in almost all type of cells, the accumulation of undegraded

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47

Al, Eisa Nada. "Evaluation of new therapies in Niemann-Pick type C disease." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:1538a0d6-b08e-444c-900d-de3ea3834ca5.

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48

Peterneva, Ksenia. "Determining the mechanism of pathogenesis of mucolipidosis type IV and related lysosomal storage disorders for development of novel therapies." Thesis, University of Oxford, 2014. http://ora.ox.ac.uk/objects/uuid:321b1da6-0033-4230-b047-b643e5ea3e60.

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Mucolipidosis type IV (MLIV) is a rare, autosomal recessive, neurodegenerative, lysosomal storage disorder. MLIV is caused by mutations in a gene (MCOLN1) encoding a TRP channel family member known as Mucolipin 1 or TRPML1. TRPML1 is a lysosomal transmembrane protein that appears to be required for normal lysosomal pH regulation, recycling of molecules and membrane reorganisation including lysosomal biogenesis, fusion and exocytosis. The exact function of the channel is unknown but it is permeable to multiple ions including Ca<sup>2+</sup>, Na<sup>+</sup> and K<sup>+</sup>, possibly also Fe<su

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49

Mütze, Ulrike, Friederike Bürger, Jessica Hoffmann, et al. "Multigene panel next generation sequencing in a patient with cherry red macular spot: identification of two novelmutations in NEU1 gene causing sialidosis type I associated with mild to unspecific biochemical and enzymatic findings." Molecular Genetics and Metabolism Reports 10 (2017) 1–4 doi:10.1016/j.ymgmr.2016.11.004, 2016. https://ul.qucosa.de/id/qucosa%3A15254.

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Анотація:

Background: Lysosomal storage diseases (LSD) often manifest with cherry red macular spots. Diagnosis is based on clinical features and specific biochemical and enzymatic patterns. In uncertain cases, genetic testing with next generation sequencing can establish a diagnosis, especially in milder or atypical phenotypes. We report on the diagnostic work-up in a boy with sialidosis type I, presenting initially with marked cherry red macular spots but non-specific urinary oligosaccharide patterns and unusually mild excretion of bound sialic acid. Methods: Biochemical, enzymatic and genetic tests we

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50

Langford-Smith, Alexander William Walker. "Lentiviral vector mediated haematopoietic stem cell gene therapy for mucopolysaccharidosis type IIIA." Thesis, University of Manchester, 2012. https://www.research.manchester.ac.uk/portal/en/theses/lentiviral-vector-mediated-haematopoietic-stem-cell-gene-therapy-for-mucopolysaccharidosis-type-iiia(89f8e108-58f3-42bb-8b80-0e0a1fe45fd7).html.

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Mucopolysaccharidosis type III (Sanfilippo) is comprised of four phenotypically similar lysosomal storage disorders (MPS IIIA-D) caused by the deficiency of enzymes that catabolise heparan sulphate (HS). Progressive accumulation of HS results in abnormal behaviour, progressive cognitive and motor impairment and death in mid-teens. There are currently no treatments for MPS III. To assess the effect of novel therapeutics in the mouse models of MPS III it is necessary to examine the effect on primary storage of HS, secondary storage and behaviour. The reported behaviour of MPS IIIA and B mice is

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