Relevant bibliographies by topics / Paraplegin

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

Academic literature on the topic 'Paraplegin'

Author: Grafiati
Published: 9 March 2023
Last updated: 31 July 2025

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Journal articles on the topic "Paraplegin"

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Atorino, Luigia, Laura Silvestri, Mirko Koppen, et al. "Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia." Journal of Cell Biology 163, no. 4 (2003): 777–87. http://dx.doi.org/10.1083/jcb.200304112.

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Mmutations in paraplegin, a putative mitochondrial metallopeptidase of the AAA family, cause an autosomal recessive form of hereditary spastic paraplegia (HSP). Here, we analyze the function of paraplegin at the cellular level and characterize the phenotypic defects of HSP patients' cells lacking this protein. We demonstrate that paraplegin coassembles with a homologous protein, AFG3L2, in the mitochondrial inner membrane. These two proteins form a high molecular mass complex, which we show to be aberrant in HSP fibroblasts. The loss of this complex causes a reduced complex I activity in mitoc
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Koppen, Mirko, Metodi D. Metodiev, Giorgio Casari, Elena I. Rugarli, and Thomas Langer. "Variable and Tissue-Specific Subunit Composition of Mitochondrial m-AAA Protease Complexes Linked to Hereditary Spastic Paraplegia." Molecular and Cellular Biology 27, no. 2 (2006): 758–67. http://dx.doi.org/10.1128/mcb.01470-06.

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ABSTRACT The m-AAA protease, an ATP-dependent proteolytic complex in the mitochondrial inner membrane, controls protein quality and regulates ribosome assembly, thus exerting essential housekeeping functions within mitochondria. Mutations in the m-AAA protease subunit paraplegin cause axonal degeneration in hereditary spastic paraplegia (HSP), but the basis for the unexpected tissue specificity is not understood. Paraplegin assembles with homologous Afg3l2 subunits into hetero-oligomeric complexes which can substitute for yeast m-AAA proteases, demonstrating functional conservation. The functi
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Akhtar, Ammara, Sobia Nazir Choudhry, Rana Muhammad Mateen, and Mureed Hussain. "Genetics A Comprehensive In Silico Analysis of Deleterious SNPs of Paraplegin Protein Associated with Hereditary Spastic Paraplegia through Mitochondrial Dysfunction." BioScientific Review 2, no. 2 (2020): 1–14. http://dx.doi.org/10.32350/bsr.0202.01.

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Hereditary spastic paraplegia (HSP) is a heterogenous neurological disorder primarily associated with progressive spasticity. Paraplegin is a mitochondrial protein and mutations in this protein can lead to HSP. In this study, in silico analysis was carried out to identify the pathogenic variants of SPG7 (paraplegin protein). To find novel pathogenic mutations, missense and splicing variants were collected from gnomAD database and passed through a detailed and stringent analysis with the help of a variety of bioinformatic tools. The list of mutations was examined and compared in ClinVar. Altoge
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Almomen, MM, KA Martens, A. Hanson, L. Korngut, and G. pfeffer. "P.071 Novel mutations in SPG7 identified from patients with late-onset spasticity." Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques 45, s2 (2018): S35. http://dx.doi.org/10.1017/cjn.2018.173.

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Background: Hereditary spastic paraplegia (HSP) is a group of genetic diseases that cause progressive degeneration of the corticospinal tract. Historically, this disease was divided into two types:the classic subtype, with leg weakness and hypertonic bladder, and the complicated subtype, with features such as cerebellar ataxia or optic atrophy.Mutations in SPG7 (encoding paraplegin) leads to complicated HSP causing cerebellar ataxia, progressive external ophthalmoplegia in addition to the classical symptoms. AFG3L2 is a binding partner of paraplegin and mutations in AFG3L2 cause a similar synd
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Elleuch, N., C. Depienne, A. Benomar, et al. "Mutation analysis of the paraplegin gene (SPG7) in patients with hereditary spastic paraplegia." Neurology 66, no. 5 (2006): 654–59. http://dx.doi.org/10.1212/01.wnl.0000201185.91110.15.

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Duvezin-Caubet, Stéphane, Mirko Koppen, Johannes Wagener, et al. "OPA1 Processing Reconstituted in Yeast Depends on the Subunit Composition of the m-AAA Protease in Mitochondria." Molecular Biology of the Cell 18, no. 9 (2007): 3582–90. http://dx.doi.org/10.1091/mbc.e07-02-0164.

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The morphology of mitochondria in mammalian cells is regulated by proteolytic cleavage of OPA1, a dynamin-like GTPase of the mitochondrial inner membrane. The mitochondrial rhomboid protease PARL, and paraplegin, a subunit of the ATP-dependent m-AAA protease, were proposed to be involved in this process. Here, we characterized individual OPA1 isoforms by mass spectrometry, and we reconstituted their processing in yeast to identify proteases involved in OPA1 cleavage. The yeast homologue of OPA1, Mgm1, was processed both by PARL and its yeast homologue Pcp1. Neither of these rhomboid proteases
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Gelbard, Harris A. "Synapses and Sisyphus: life without paraplegin." Journal of Clinical Investigation 113, no. 2 (2004): 185–87. http://dx.doi.org/10.1172/jci20783.

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Gelbard, H. A. "Synapses and Sisyphus: life without paraplegin." Journal of Clinical Investigation 113, no. 2 (2004): 185–87. http://dx.doi.org/10.1172/jci200420783.

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Pirozzi, M. "Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia." Journal of Clinical Investigation 116, no. 1 (2005): 202–8. http://dx.doi.org/10.1172/jci26210.

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Pirozzi, Marinella, Angelo Quattrini, Gennaro Andolfi, et al. "Intramuscular viral delivery of paraplegin rescues peripheral axonopathy in a model of hereditary spastic paraplegia." Journal of Clinical Investigation 124, no. 2 (2014): 871. http://dx.doi.org/10.1172/jci75082.

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Dissertations / Theses on the topic "Paraplegin"

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MANCUSO, GIUSEPPE. "Dissecting the pathogenesis of hereditary spastic paraplegia linked to SPG4 and SPG7 genes." Doctoral thesis, Università degli Studi di Milano-Bicocca, 2011. http://hdl.handle.net/10281/20207.

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The aim of this thesis is to analyze and characterize the function of two genes involved in Hereditary Spastic Paraplegia, SPG4 and SPG7, to dissect their role in the pathogenesis of the disease. SPG4 encodes for Spastin, a microtubule severing protein involved in cytoskeletal dynamics and subcellular trafficking. On the other hand, SPG7 encodes for Paraplegin, a subunit of the m-AAA protease complex. This protease plays a key role in inner membrane protein quality control and in specific substrate maturation. Studying two genes with different function can shed light on common pathogenetic
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Mungovan, Sean F., and n/a. "The Effect of Elevation and Venous Occlusion Pressure on Cardiovascular Function in Physically Active Men Who Are Paraplegic." Griffith University. School of Physiotherapy and Exercise Science, 2004. http://www4.gu.edu.au:8080/adt-root/public/adt-QGU20040917.084824.

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The purpose of the present investigation was to: 1) Determine the relationship between cardiac output (estimated using the acetylene rebreathing methodology) and oxygen consumption in a homogeneous group of men who are paraplegic. 2) Investigate whether lower limb elevation increases stroke volume and decreases heart rate at rest and during submaximal arm exercise. 3) Investigate whether the application of constant circumferential pneumatic pressure applied to dependent lower limbs increases stroke volume and decreases heart rate at rest and during submaximal arm exercise.
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Mungovan, Sean F. "The Effect of Elevation and Venous Occlusion Pressure on Cardiovascular Function in Physically Active Men Who Are Paraplegic." Thesis, Griffith University, 2004. http://hdl.handle.net/10072/365190.

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The purpose of the present investigation was to: 1) Determine the relationship between cardiac output (estimated using the acetylene rebreathing methodology) and oxygen consumption in a homogeneous group of men who are paraplegic. 2) Investigate whether lower limb elevation increases stroke volume and decreases heart rate at rest and during submaximal arm exercise. 3) Investigate whether the application of constant circumferential pneumatic pressure applied to dependent lower limbs increases stroke volume and decreases heart rate at rest and during submaximal arm exercise.<br>Thesis (Masters)<
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Souza, Lúcia Inês Macedo de. "Investigação genética de duas novas doenças neurodegenerativas: síndrome de Spoan (Spastic Paraglegia with Optic Atrophy and Neuropathy) e SPG34." Universidade de São Paulo, 2008. http://www.teses.usp.br/teses/disponiveis/41/41131/tde-06112008-164924/.

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Estudamos duas grandes famílias com manifestações de doenças neurodegenerativas. Uma delas é originária do alto oeste do estado do Rio Grande do Norte e a outra, da região de São José do Rio Preto, SP. A primeira, uma extensa família com tradição de casamentos consangüíneos, apresenta 68 indivíduos afetados pela síndrome a qual nomeamos Spoan (Spastic Paraplegia, Optic Atrophy, Neuropathy). A mesma é uma doença neurodegenerativa de herança autossômica recessiva, caracterizada por atrofia óptica congênita, espasticidade, polineuropatia periférica axonal sensitivo-motora, sobressaltos à
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Oteyza, Andrés de [Verfasser], and Ludger [Akademischer Betreuer] Schöls. "Gene identification in Hereditary Spastic Paraplegias and characterization of Spastic Paraplegia type 58 (SPG58) / Andrés de Oteyza ; Betreuer: Ludger Schöls." Tübingen : Universitätsbibliothek Tübingen, 2016. http://d-nb.info/1165236532/34.

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Berry, Helen Russell. "Characterisation of cardiorespiratory responses to electrically stimulated cycle training in paraplegia." Thesis, Connect to e-thesis. Edited version, 2008. http://theses.gla.ac.uk/386/.

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Thesis (Ph.D.) - University of Glasgow, 2008.<br>PhD. theses submitted to the Department of Mechanical Engineering, Faculty of Engineering, University of Glasgow. Edited version of thesis available, uncleared 3rd party copyright material removed. Includes bibliographical references. Print version also available.
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Santos, Leila Conceição Rosa dos. "Re dimensionando limitações e possibilidades: a trajetória da pessoa com lesão medular traumática." Universidade de São Paulo, 2000. http://www.teses.usp.br/teses/disponiveis/7/7136/tde-02082007-112821/.

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O estudo foi realizado com pessoas do sexo masculino e que viveram a experiência de sofrer um trauma que acarretou a lesão da medula espinal. Teve como objetivos: - compreender os significados que a pessoa atribui a sua experiência de ser lesado medular; - compreender a maneira como a dimensão atribuída ao significado de ser lesado medular se manifesta nas ações da pessoa; - desenvolver um modelo teórico representativo da experiência da pessoa que sofreu uma lesão traumática na medula espinal. Utilizou-se como referencial teórico o Interacionismo Simbólico e como referencial metodológico, a Te
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Silva, Gelson Aguiar da. "Funcional independence of individuals With paraplegia in a rehabilitation program: results and associated factors." Universidade Federal do CearÃ, 2006. http://www.teses.ufc.br/tde_busca/arquivo.php?codArquivo=389.

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CoordenaÃÃo de AperfeiÃoamento de Pessoal de NÃvel Superior<br>Spinal cord injury can convey constraints to individuals, but a rehabilitation program which evalueates the functional gain allows outpatient care during the rehabilitation process. The aim of the present research was to evaluate results obtained trough the administration of Functional Independence Measure (FIM scale) in paraplegic petients within rehabilitation programs, by connecting such results with the variables: age, gender, time, level and etiology of the lesion, classification of lesion according to the ASIA (American Spina
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Parodi, Livia. "Identification of genetic modifiers in Hereditary Spastic Paraplegias due to SPAST/SPG4 mutations Spastic paraplegia due to SPAST mutations is modified by the underlying mutation and sex Hereditary spastic paraplegia: More than an upper motor neuron disease." Thesis, Sorbonne université, 2019. http://www.theses.fr/2019SORUS317.

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Les Paraplégies Spastiques Héréditaires (PSHs) sont un groupe de maladies neurodégénératives rares qui surviennent suite à la dégénérescence progressive des voies corticospinales, entraînant une spasticité des membres inférieurs, signe distinctif de la pathologie. Elles se caractérisent par une extrême hétérogénéité qui concerne à la fois les facteurs génétiques et cliniques, ainsi que d’autres aspects de la maladie, tels que l’âge d’apparition et la sévérité des signes. Cette variabilité est typiquement observée chez les patients porteurs de mutations pathogènes dans SPAST, le gène le plus fr
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STRAPPAVECCIA, Silvia. "IMPIANTO AUTOLOGO DI CELLULE STAMINALI NOM (NASAL OLFACTORY MUCOSA) IN CANI PARAPLEGICI CRONICI [AUTOLOGOUS IMPLANT OF NASAL OLFACTORY MUCOSA (NOM) STEM CELLS IN CHRONIC PARAPLEGIC DOGS]." Doctoral thesis, Università degli Studi di Camerino, 2007. http://hdl.handle.net/11581/401897.

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La terapia delle lesioni spinali croniche dell'uomo rappresenta attualmente uno dei maggiori campi di interesse della ricerca scientifica. Tra le strategie sperimentali di ultima elaborazione, il trapianto di cellule staminali sta dimostrando notevoli potenzialita'  per la cura di molte patologie del SNC. I modelli animali principalmente utilizzati per gli studi sperimentali sono i ratti, ma le dimensioni del midollo spinale in questa specie sono estremamente diverse da quelle dell'uomo, e le condizioni di laboratorio in cui i protocolli sperimentali vengono applicati sono molto differenti dal
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Books on the topic "Paraplegin"

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1937-, Rogers Michael A., ed. Living with paraplegia. Faber and Faber, 1986.

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Antonio, Pedotti, Ferrarin Maurizio, and Commission of the European Communities., eds. Restoration of walking for paraplegics: Recent advances and trends. Pro Juventute, 1992.

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Crowther, A. G. O. Lessons from a paraplegic. Audio Visual and Television Centre, University of Sheffield, 1988.

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Owuor, Esther. My life as a paraplegic. East African Educational Publishers, 1995.

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M, Bedbrook George, ed. Lifetime care of the paraplegic patient. Churchill Livingstone, 1985.

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Bromley, Ida. Tetraplegia and paraplegia: A guide for physiotherapists. 4th ed. Churchill Livingstone, 1991.

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Tiempo, Edilberto K. The paraplegics and five short stories. Giraffe Books, 1995.

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Ana Cristina G. Duarte Vasconcellos. Resiliência: Um estudo sobre famílias com portadores de paraplegia. Juruá Editora, 2010.

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Institute, Pennsylvania Bar. The catastrophic injury case: Quadriplegia, paraplegia & spinal injury cases. Pennsylvania Bar Institute, 2015.

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Curran, John. Just my luck! Inné Teo, 1993.

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Book chapters on the topic "Paraplegin"

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Wilson, J. Frank, and Kevin Murray. "Paraplegia." In Practical Approaches to Cancer Invasion and Metastases. Springer Berlin Heidelberg, 1994. http://dx.doi.org/10.1007/978-3-642-84885-8_4.

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Baker, Julien S., Fergal Grace, Lon Kilgore, et al. "Paraplegia." In Encyclopedia of Exercise Medicine in Health and Disease. Springer Berlin Heidelberg, 2012. http://dx.doi.org/10.1007/978-3-540-29807-6_2834.

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Pearce, David A. "Paraplegin." In Handbook of Proteolytic Enzymes. Elsevier, 2004. http://dx.doi.org/10.1016/b978-0-12-079611-3.50244-5.

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Pearce, David A., and Sergio Padilla-López. "Paraplegin." In Handbook of Proteolytic Enzymes. Elsevier, 2013. http://dx.doi.org/10.1016/b978-0-12-382219-2.00148-4.

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"Paraplegin." In Encyclopedia of Genetics, Genomics, Proteomics and Informatics. Springer Netherlands, 2008. http://dx.doi.org/10.1007/978-1-4020-6754-9_12303.

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Pearce, David A., and Sergio Padilla-López. "Paraplegin." In Handbook of Proteolytic Enzymes. Elsevier, 2025. https://doi.org/10.1016/b978-0-443-28849-4.00223-x.

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Jesel, Michel. "35 Paraplegien Paraplegie zentrale Lähmung Paraplegie." In Neurologie für Physiotherapeuten, 3rd ed. Georg Thieme Verlag KG, 2021. http://dx.doi.org/10.1055/b-0041-182486.

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Rodriguez, Dr Moses. "Neuromyelitis optica (Devic’s disease)." In Fifty Neurologic Cases From Mayo Clinic. Oxford University PressNew York, NY, 2004. http://dx.doi.org/10.1093/oso/9780195177442.003.0019.

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Abstract When this patient arrived at Mayo Clinic, she was blind, paraplegic, and in severe respiratory distress. The paraplegia had been present for more than 3 months. Her mother and husband had brought her to Mayo Clinic in hope of a cure. The clinical situation seemed ominous. On MRI, the high cervical-medullary lesion appeared to be demyelinating. The presence of the Fisher one-and-a-half syndrome provided support for this opinion, and the associated optic nerve involvement raised the suspicion specifically of Devic’s disease (neuromyelitis optica).
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"35 Paraplegien Paraplegien Paraplegien zentrale Lähmungen Paraplegien." In Neurologie für Physiotherapeuten, edited by Michel Jesel. Georg Thieme Verlag, 2015. http://dx.doi.org/10.1055/b-0035-124080.

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"Thromboseprophylaxe." In Paraplegie. S. Karger AG, 2005. http://dx.doi.org/10.1159/000089427.

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Conference papers on the topic "Paraplegin"

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Devi, Chelli N., Raja Krishnamoorthi, and Sumit Nayak. "Development of EEG-Based Prosthetic Limb for Paraplegic and Quadriplegic Patients." In 2025 International Conference on Machine Learning and Autonomous Systems (ICMLAS). IEEE, 2025. https://doi.org/10.1109/icmlas64557.2025.10968343.

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Linder-Ganz, Eran, Noga Shabshin, Yacov Itzchak, Itzhak Siev-Ner, and Amit Gefen. "Peak Gluteal Muscle Strain and Stress Values During Sitting Are Greater in Paraplegics Than in Normals." In ASME 2007 Summer Bioengineering Conference. American Society of Mechanical Engineers, 2007. http://dx.doi.org/10.1115/sbc2007-175941.

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Deep tissue injury (DTI) is a severe type of pressure ulcers affecting the viability of muscle tissue under bony prominences first [1]. Most researchers agree that prolonged elevated muscle tissue strains and stresses cause the onset of DTI. We recently showed that internal strain and stress distributions in muscle tissue of individuals can be evaluated by integrating Open-MRI examinations with subject-specific finite element (FE) analyses [2]. However, sub-dermal soft tissue strain and stress data from paraplegic wheelchair users are missing in the literature. Our present goals were therefore
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Strausser, Katherine A., Tim A. Swift, Adam B. Zoss, and H. Kazerooni. "Prototype Medical Exoskeleton for Paraplegic Mobility: First Experimental Results." In ASME 2010 Dynamic Systems and Control Conference. ASMEDC, 2010. http://dx.doi.org/10.1115/dscc2010-4261.

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Spinal cord injuries leave thousands of patients confined to wheelchairs, resulting in a life of severely limited mobility. This condition also subjects them to the risk of secondary injuries. Because exoskeletons are externally driven machines in which the actuation is coupled to the person’s joints, they offer an ideal method to help paraplegics walk. The exoskeleton presented here is a mobile, battery powered device that uses hydraulically actuated hip and knee joints in the sagittal plane to move a patient’s joints. The control strategy mimics standard human walking using foot sensors to d
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Paredes, Victor, and Ayonga Hereid. "Dynamic Locomotion of a Lower-Limb Exoskeleton Through Virtual Constraints Based ZMP Regulation." In ASME 2020 Dynamic Systems and Control Conference. American Society of Mechanical Engineers, 2020. http://dx.doi.org/10.1115/dscc2020-3170.

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Abstract Robotic lower-limb exoskeletons have the potentials to assist individuals with paraplegia to perform normal ambulatory functions and to provide exceptional health benefits. While modern-day hardware for exoskeletons is becoming more powerful, there are still significant challenges in implementing a practical exoskeleton motion control framework that helps paraplegic individuals to complete regular ambulatory tasks stably, safely, and efficiently without the use of arm-crutches. Inspired by the current development in dynamic walking controllers for a bipedal robot, this paper proposes
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Katti, Vikram, and William Durfee. "Preliminary Design and Testing of a Muscle-Powered Walking Exoskeleton for People With Spinal Cord Injury." In 2018 Design of Medical Devices Conference. American Society of Mechanical Engineers, 2018. http://dx.doi.org/10.1115/dmd2018-6889.

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There are 275,000 people in the US who have spinal cord injury (SCI) and there are about 12,500 new cases each year [1]. Among these 18.5% have incomplete paraplegia and 23% have complete paraplegia [1]. The number of patients experiencing mobility impairment caused by SCI is increasing because of accidents and disease [2,3]. Among people with SCI, 51% identified walking as first choice for a technology application [4].
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Antônia Andrade Rangel, Maria, Larissa Alvarenga Pereira de Souza, Lucas Arêas Soares, Bruno Gama Linhares, and Juliana Siqueira Pessanha. "Redução do score de risco cardiovascular em pessoas com paraplegia através de um programa de reabilitação física." In Semana Científica da Faculdade de Medicina de Campos. Faculdade de Medicina de Campos, 2023. http://dx.doi.org/10.29184/anaisscfmc.v22023p35.

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Introdução: As doenças cardiovasculares são a principal causa de morte de pessoas que envelhecem com lesão medular, uma das medidas necessárias para a prevenção e redução dessas patologias está no bom condicionamento físico, promovido por atividades físicas regulares. Objetivos: Realizar um programa de reabilitação física com finalidade de reduzir o score do risco cardiovascular em indivíduos com lesão medular e paraplegia em Campos dos Goytacazes. Métodos: Essa é uma pesquisa experimental do tipo ensaio clínico randomizado aberto controlado de dois braços, com início no período de novembro de
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Britto, P., S. Sivarasu, and V. Rekha. "Conceptual design of a paraplegic walker." In 7th International Conference on Appropriate Healthcare Technologies for Developing Countries. Institution of Engineering and Technology, 2012. http://dx.doi.org/10.1049/cp.2012.1490.

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Braga, Vinícius Lopes, Wladimir Bocca Vieira de Rezende Pinto, Bruno de Mattos Lombardi Badia, et al. "Spastic paraplegia type 73: expanding phenotype of the first two Brazilian families." In XIII Congresso Paulista de Neurologia. Zeppelini Editorial e Comunicação, 2021. http://dx.doi.org/10.5327/1516-3180.552.

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Context: Hereditary spastic paraplegias (HSPs) represent an expanding group of neurodegenerative diseases characterized mainly by progressive spastic paraparesis of the lower limbs. More than 80 different genetic loci have been associated with HSPs. In 2015, heterozygous pathogenic variants in the CPT1C gene were first associated with SPG73, not yet described in Brazilian patients. Objective: We present clinical, neuroimaging and genetic features of three Brazilian patients with SPG73. Cases reports: We report one male and two female patients, age range 36 to 78 years old. Case 1 presented wit
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Lazarin, Gabriela Bazzanella, and Eliane Pinheiro. "MODA INCLUSIVA: VESTUÁRIO PARA MULHERES COM PARAPLEGIA." In 16° Ergodesign – Congresso Internacional de Ergonomia e Usabilidade de Interfaces Humano Tecnológica. Editora Blucher, 2017. http://dx.doi.org/10.5151/16ergodesign-0167.

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Stohr, Lee. "Hand Controls for Paraplegic Race Car Drivers." In Motorsports Engineering Conference & Exposition. SAE International, 1998. http://dx.doi.org/10.4271/983070.

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Reports on the topic "Paraplegin"

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Purdy, Allison. The Effects of Yoga Therapy on the Quality of Life for a Paraplegic Individual. Portland State University Library, 2000. http://dx.doi.org/10.15760/etd.342.

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