Výsledky vyhledávání - "genetics [Muscular Atrophy, Spinal]"

Prevalence of Anti-Adeno-Associated Virus Serotype 9 Antibodies in Adult Patients with Spinal Muscular Atrophy

Autor: Benjamin Stolte, Olivia Schreiber-Katz, René Günther, Claudia Diana Wurster, Susanne Petri, Alma Osmanovic, Maren Freigang, Zeljko Uzelac, Markus Leo, Otgonzul von Velsen, Wibke Bayer, Ulf Dittmer, Christoph Kleinschnitz, Tim Hagenacker

Publikováno v: Human gene therapy 33, 968-976 (2022). doi:10.1089/hum.2022.054

5q-associated spinal muscular atrophy (SMA) is an autosomal recessive neuromuscular disorder that leads to progressive muscle atrophy and weakness. The disease is caused by a homozygous deletion or mutation in the survival of motor neuron 1 (SMN1) ge

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::68a249cf634b6e20bf7773fab7e41bb5
https://pub.dzne.de/record/165149

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Autophagy in motor neuron diseases

Autor: Rodriguez-Muela, Natalia

Publikováno v: Progress in molecular biology and translational science 172, 157-202 (2020). doi:10.1016/bs.pmbts.2020.03.009

Motor neuron diseases (MNDs) are a wide group of neurodegenerative disorders characterized by the degeneration of a specific neuronal type located in the central nervous system, the motor neuron (MN). There are two main types of MNs, spinal and corti

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::d62e2b3b2a1db2166925b2c6c1720a6d
https://pubmed.ncbi.nlm.nih.gov/32620242

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The metabolic and endocrine characteristics in spinal and bulbar muscular atrophy

Publikováno v: Journal of neurology 265(5), 1026-1036 (2018). doi:10.1007/s00415-018-8790-2

Spinal and bulbar muscular atrophy (SBMA) is caused by an abnormal expansion of the CAG repeat in the androgen receptor gene. This study aimed to systematically phenotype a German SBMA cohort (n = 80) based on laboratory markers for neuromuscular, me

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https://doi.org/10.1007/s00415-018-8790-2

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Therapeutic advances in SMA

Autor: Claudia D. Wurster, Albert C. Ludolph

Publikováno v: Current opinion in neurology 32(5), 777-781 (2019). doi:10.1097/WCO.0000000000000738

To review the advent of novel therapies and their impact on the field of chromosome 5q-associated spinal muscular atrophy (SMA).Antisense oligonucleotides (ASOs) enhancing SMN2 function are delivered intrathecally and small molecules will also be ava

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Plastin 3 is upregulated in iPSC-derived motoneurons from asymptomatic SMN1-deleted individuals

Autor: Swetlana Ritzenhofen, Michael Peitz, Brunhilde Wirth, Laura Torres-Benito, Daniela Eckert, Irmgard Hölker, Min Jeong Kye, Seyyedmohsen Hosseinibarkooie, Raoul Heller, Johannes Jungverdorben, Oliver Brüstle, Markus Storbeck, Renata Lonigro, Beatrice Weykopf, Kristina Dobrindt, Noemi Fusaki, Kristina Hupperich, Ludwig Heesen

Publikováno v: Cellular and molecular life sciences 73(10), 2089-2104 (2015). doi:10.1007/s00018-015-2084-y

Spinal muscular atrophy (SMA) is a devastating motoneuron (MN) disorder caused by homozygous loss of SMN1. Rarely, SMN1-deleted individuals are fully asymptomatic despite carrying identical SMN2 copies as their SMA III-affected siblings suggesting pr

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::697b72ca08719ad06a12beea62d9e6fc
https://pub.dzne.de/record/138510

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PTEN depletion decreases disease severity and modestly prolongs survival in a mouse model of spinal muscular atrophy

Autor: Chantal A. Mutsaers, Ellen J. Bennett, Basil Sharrack, Ke Ning, Chiara F. Valori, Pamela J. Shaw, Thomas H. Gillingwater, Daniel Little, Matthew Wyles, Mimoun Azzouz

Publikováno v: Molecular therapy 23(2), 270-277 (2015). doi:10.1038/mt.2014.209
Molecular Therapy

Spinal muscular atrophy (SMA) is the second most common genetic cause of death in childhood. However, no effective treatment is available to halt disease progression. SMA is caused by mutations in the survival motor neuron 1 (SMN1) gene. We previousl

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Phenotypic and molecular insights into spinal muscular atrophy due to mutations in BICD2

Publikováno v: Brain 138(2), 293-310 (2014). doi:10.1093/brain/awu356
Brain

Spinal muscular atrophy is a disorder of lower motor neurons, most commonly caused by recessive mutations in SMN1 on chromosome 5q. Cases without SMN1 mutations are subclassified according to phenotype. Spinal muscular atrophy, lower extremity-predom

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5f39aa68b3b4e096df10ba3aace4bea8
https://europepmc.org/articles/PMC4306822/

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Dominant spinal muscular atrophy due to BICD2: a novel mutation refines the phenotype

Autor: Brunhilde Wirth, Lilian A. Martinez-Carrera, Tobias Lindig, Ludger Schöls, Matthis Synofzik

Publikováno v: Journal of neurology, neurosurgery, and psychiatry 85(5), 590-592 (2013). doi:10.1136/jnnp-2013-306777

Spinal muscular atrophies (SMA) are a genetically and clinically heterogeneous group of disorders predominantly of the anterior horn. While the large majority of recessive SMA cases can be explained by mutations in SMN1 , the genetic basis of dominan

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::dedbe20febdb739d0a2f716ab7c31312
https://pubmed.ncbi.nlm.nih.gov/24336790

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Late adult-onset pure spinal muscular atrophy due to a compound HEXB macro-deletion

Autor: Christian Wilhelm, Ludger Schöls, Tim W. Rattay, Matthis Synofzik

Publikováno v: Amyotrophic lateral sclerosis & frontotemporal degeneration 14(7-8), 628-629 (2013). doi:10.3109/21678421.2013.812662

Patients with adult-onset pure spinal muscular atrophy with onset > 40 years of age and negative for SMN1 mutations present a complex diagnostic challenge as routine work-up often remains inconclus...

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