Relevant bibliographies by topics / Galactocerebrosidase

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  1. Journal articles
  2. Dissertations / Theses
  3. Books
  4. Book chapters
  5. Conference papers

Academic literature on the topic 'Galactocerebrosidase'

Author: Grafiati
Published: 7 June 2025
Last updated: 2 August 2025

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Journal articles on the topic "Galactocerebrosidase"

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Martino, Sabata, Roberto Tiribuzi, Andrea Tortori та ін. "Specific Determination of β-Galactocerebrosidase Activity via Competitive Inhibition of β-Galactosidase". Clinical Chemistry 55, № 3 (2009): 541–48. http://dx.doi.org/10.1373/clinchem.2008.115873.

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Abstract Background: The determination of cellular β-galactocerebrosidase activity is an established procedure to diagnose Krabbe disease and monitor the efficacy of gene/stem cell-based therapeutic approaches aimed at restoring defective enzymatic activity in patients or disease models. Current biochemical assays for β-galactocerebrosidase show high specificity but generally require large protein amounts from scanty sources such as hematopoietic or neural stem cells. We developed a novel assay based on the hypothesis that specific measurements of β-galactocerebrosidase activity can be perform
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Luddi, Alice, Laura Crifasi, Angela Capaldo, Paola Piomboni, and Elvira Costantino-Ceccarini. "Suppression of galactocerebrosidase premature termination codon and rescue of galactocerebrosidase activity in twitcher cells." Journal of Neuroscience Research 94, no. 11 (2016): 1273–83. http://dx.doi.org/10.1002/jnr.23790.

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Hill, Chris H., Randy J. Read, and Janet E. Deane. "Structure of human saposin A at lysosomal pH." Acta Crystallographica Section F Structural Biology Communications 71, no. 7 (2015): 895–900. http://dx.doi.org/10.1107/s2053230x15008584.

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The saposins are essential cofactors for the normal lysosomal degradation of complex glycosphingolipids by acid hydrolase enzymes; defects in either saposin or hydrolase function lead to severe metabolic diseases. Saposin A (SapA) activates the enzyme β-galactocerebrosidase (GALC), which catalyzes the breakdown of β-D-galactocerebroside, the principal lipid component of myelin. SapA is known to bind lipids and detergents in a pH-dependent manner; this is accompanied by a striking transition from a `closed' to an `open' conformation. However, previous structures were determined at non-lysosomal
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Saleena, Resheed, and Dharmaraj Aswathy. "A Review of Krabbe Disease." Journal of Research and Reviews in Nursing Science and Education 1, no. 2 (2024): 46–51. https://doi.org/10.5281/zenodo.14005295.

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Jalal, Kabir, Randy Carter, Li Yan, Amy Barczykowski, and Patricia K. Duffner. "Does Galactocerebrosidase Activity Predict Krabbe Phenotype?" Pediatric Neurology 47, no. 5 (2012): 324–29. http://dx.doi.org/10.1016/j.pediatrneurol.2012.07.003.

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Wenger, D. A., and E. Louie. "Pseudodeficiencies of Arylsulfatase A and Galactocerebrosidase Activities." Developmental Neuroscience 13, no. 4-5 (1991): 216–21. http://dx.doi.org/10.1159/000112163.

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Konola, Jukka T., Timothy A. Lyerla, Mark C. Skiba, and Srinivasa Raghavan. "Establishment of a galactocerebrosidase-deficient twitcher mouse cell line that expresses galactocerebrosidase activity in hybrids with control human fibroblasts." In Vitro Cellular & Developmental Biology 24, no. 6 (1988): 575–80. http://dx.doi.org/10.1007/bf02629093.

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Tsareva, Julia A., N. I. Zryachkin, M. A. Kuznetsova, and A. V. Ryadchenko. "KRABBE LEUCODYSTROPHY (WITH A DESCRIPTION OF THE CLINICAL CASE)." Russian Pediatric Journal 21, no. 2 (2019): 114–20. http://dx.doi.org/10.18821/1560-9561-2018-21-2-114-120.

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Krabbe disease (globoid cell leukodystrophy) is a rare autosomal recessive pathology related to lysosomal accumulation diseases. The basis of the disease are mutations in a gene, which encodes the synthesis of the galactocerebrosidase (GALC), which lead to its deficiency. The result is an accumulation with toxic properties predecessor galactocerebroside galactocerebroside (psychosine), which causes the breakdown of myelin with the formation of globoid cells. In 90% of cases, the disease manifests itself within the first six months of life with hyperexcitability, delay or regression of psychomo
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Sakai, Norio, Koji Inui, Mitsuo Midorikawa, et al. "Purification and Characterization of Galactocerebrosidase from Human Lymphocytes1." Journal of Biochemistry 116, no. 3 (1994): 615–20. http://dx.doi.org/10.1093/oxfordjournals.jbchem.a124569.

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Mikulka, Christina R., Joshua T. Dearborn, Bruno A. Benitez, et al. "Cell-autonomous expression of the acid hydrolase galactocerebrosidase." Proceedings of the National Academy of Sciences 117, no. 16 (2020): 9032–41. http://dx.doi.org/10.1073/pnas.1917675117.

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Lysosomal storage diseases (LSDs) are typically caused by a deficiency in a soluble acid hydrolase and are characterized by the accumulation of undegraded substrates in the lysosome. Determining the role of specific cell types in the pathogenesis of LSDs is a major challenge due to the secretion and subsequent uptake of lysosomal hydrolases by adjacent cells, often referred to as “cross-correction.” Here we create and validate a conditional mouse model for cell-autonomous expression of galactocerebrosidase (GALC), the lysosomal enzyme deficient in Krabbe disease. We show that lysosomal membran
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Dissertations / Theses on the topic "Galactocerebrosidase"

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Hill, Christopher Harrison. "Structural and functional studies of beta-galactocerebrosidase (GALC) : the defective enzyme in Krabbe disease." Thesis, University of Cambridge, 2015. https://ethos.bl.uk/OrderDetails.do?uin=uk.bl.ethos.708824.

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OulaÏdi, Farah. "Conception et synthèse d'iminoglycolipides comme inhibiteurs d'enzymes lysosomales à effet chaperon pharmacologique." Thesis, Orléans, 2011. http://www.theses.fr/2011ORLE2001/document.

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La thérapie chaperon représente une approche thérapeutique stratégique et innovante, en particulier dans le traitement des maladies lysosomales. Ces maladies génétiques rares ont une gravité variable, qui peut aller de la létalité avant la naissance jusqu’à la nécessité d‟une prise en charge permanente ; elles apparaissent à tous les stades de la vie. Des mimes du substrat appelé iminosucres, vont agir en allant au coeur du site actif de l’enzyme, stabiliser l’enzyme mutée qui est instable mais non inactive. Paradoxalement, la plupart des chaperons pharmacologiques sont des inhibiteurs de l’en
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Biela, Anna. "Synthèse de nouveaux dérivés d’iminogalactitol et d’épi-isofagomine comme chaperons pharmacologiques potentiels pour la maladie de Krabbe." Thesis, Orléans, 2013. http://www.theses.fr/2013ORLE2057/document.

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L’objectif de mon projet de thèse était de synthétiser différentes familles d’iminosucres comme chaperons pharmacologiques potentiels de la B-galactocérébrosidase (GALC). Cette glycosidase lysosomale est responsable de la maladie de Krabbe, une maladie rare et héréditaire qui ne dispose actuellement pas de traitement. La thérapie chaperon est une nouvelle stratégie consistant à administrer, à des concentrations très faibles, une petite molécule ayant des interactions fortes avec l'enzyme. La plupart du temps, les molécules à effet chaperon les plus efficaces sont de puissants inhibiteurs de l'
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Vrielink, Nina [Verfasser], and Dirk [Akademischer Betreuer] Trauner. "Studies toward the total synthesis of stephadiamine and development of photochromic galactocerebrosides / Nina Vrielink ; Betreuer: Dirk Trauner." München : Universitätsbibliothek der Ludwig-Maximilians-Universität, 2017. http://d-nb.info/119696842X/34.

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Laabich, Aïcha. "Effet du galactocerebroside sur la morphologie des cellules ependymaires in vitro et in vivo. Mise au point d'un systeme de culture primaire de cellules ependymaires sur membranes semi-permeables." Université Louis Pasteur (Strasbourg) (1971-2008), 1991. http://www.theses.fr/1991STR13150.

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Nous avons etudie l'effet du galactocerebroside sur les cellules ependymaires in vitro et in vivo. Nous avons montre que les cellules ependymaires traitees par le galcer (8. 10##7) subissent des modifications morphologiques importantes qui leur donnent l'aspect de cellules astrocytaires de type fibreux. Les cellules astrocytaires subissent aussi des modifications morphologiques apres traitement, le nombre de cellules astrocytaires a morphologie fibreuse augmente, ces cellules deviennent plus nombreuses que les astrocytes a morphologie protoplasmique. Par chromatographie sur couche mince nous n
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Books on the topic "Galactocerebrosidase"

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Köln, Universität zu, ed. Neue Synthese des galacto-Desoxynojirimycins und seine Verwendung zur Affinitätsreinigung der Galactocerebrosidase aus Schweinehirn. 1988.

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Sedel, Frédéric. Krabbe Disease in Adults. Oxford University Press, 2016. http://dx.doi.org/10.1093/med/9780199972135.003.0051.

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Krabbe disease (globoid cell leukodystrophy) is an autosomal recessive lysosomal storage disease caused by mutations in the lysosomal galactocerebrosidase (galactosyl ceramidase) gene. Krabbe disease usually presents as a severe leukodystrophy in early infancy and childhood. In contrast, adult patients usually present with progressive spastic paraparesis. Other signs of the disease include peripheral neuropathy, dysarthria, cerebellar ataxia, pes cavus deep sensory signs, tongue atrophy, optic neuropathy, cognitive decline. Cerebrospinal fluid protein concentration is moderately increased in a
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Book chapters on the topic "Galactocerebrosidase"

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Jessen, Kristjan R., and Rhona Mirsky. "Galactocerebroside Expression by Non-Myelin Forming Schwann Cells." In Glial-Neuronal Communication in Development and Regeneration. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71381-1_42.

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Ranscht, Barbara, Patrick M. Wood, Margaret Bates, and Richard P. Bunge. "Role of Galactocerebroside in the Formation of Peripheral Myelin." In Glial-Neuronal Communication in Development and Regeneration. Springer Berlin Heidelberg, 1987. http://dx.doi.org/10.1007/978-3-642-71381-1_40.

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Di Cicco, Aurélie, John Manzi, Julien Maufront, Xingyi Cheng, Manuela Dezi, and Daniel Lévy. "Galactocerebroside Lipid Nanotubes, a Model Membrane System for Studying Membrane-Associated Proteins on a Molecular Scale." In Methods in Molecular Biology. Springer US, 2024. https://doi.org/10.1007/978-1-0716-4318-1_16.

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Fujinami, R. S. "Immune Responses Against Myelin Basic Protein and/or Galactocerebroside Cross-React with Viruses: Implications for Demyelinating Disease." In Current Topics in Microbiology and Immunology. Springer Berlin Heidelberg, 1989. http://dx.doi.org/10.1007/978-3-642-74594-2_8.

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Galvin, James E., and Jose Tomas Bras. "The Lewy Body Dementias." In Charney and Nestler's Neurobiology of Mental Illness, 6th ed., edited by Alison M. Goate. Oxford University PressNew York, 2025. https://doi.org/10.1093/med/9780197640654.003.0057.

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Abstract Lewy body dementia (LBD) is the second most common form of neurocognitive disorder after Alzheimer’s disease and covers two related diagnoses: dementia with Lewy Bodies and Parkinson’s disease dementia. Despite being a common disorder, diagnosis outside expert academic centers remains a significant challenge. The core pathological feature of LBD is the cortical Lewy body; however, many cases will have coexistent Alzheimer’s disease pathology. Genetic risk factors for LBD include mutations in genes for apolipoprotein E (APOE), α-synuclein (SNCA), and galactocerebrosidase (GBA). Dopamin
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Conference papers on the topic "Galactocerebrosidase"

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Shreiber, David I., Hailing Hao, and Ragi A. I. Elias. "The Effects of Glia on the Tensile Properties of the Spinal Cord." In ASME 2008 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2008. http://dx.doi.org/10.1115/sbc2008-190184.

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Glia, the primary non-neuronal cells of the central nervous system, were initially believed to bind or glue neurons together and/or provide a supporting scaffold [1, 2]. It is now recognized that these cells provide specialized and essential biological and regulatory functions. Still, their contributions to the overall mechanical properties would also strongly influence the tissue’s tolerance to loading conditions experienced during trauma and potentially regulate of function and growth in neurons and glia [3, 4]. White matter represents an intriguing tissue to appreciate the role of glia in t
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