Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia
about
Delving into the complexity of hereditary spastic paraplegias: how unexpected phenotypes and inheritance modes are revolutionizing their nosologyIn Vivo Evidence for Lysosome Depletion and Impaired Autophagic Clearance in Hereditary Spastic Paraplegia Type SPG11Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationProtein Homeostasis in Amyotrophic Lateral Sclerosis: Therapeutic Opportunities?Defects in ER-endosome contacts impact lysosome function in hereditary spastic paraplegiaThe Ca2+ sensor protein swiprosin-1/EFhd2 is present in neurites and involved in kinesin-mediated transport in neurons.Golgi fragmentation in amyotrophic lateral sclerosis, an overview of possible triggers and consequences.Turkish families with juvenile motor neuron disease broaden the phenotypic spectrum of SPG11.Severe axonal neuropathy is a late manifestation of SPG11.GSK3ß-dependent dysregulation of neurodevelopment in SPG11-patient iPSC model.Whole-genome sequencing of two probands with hereditary spastic paraplegia reveals novel splice-donor region variant and known pathogenic variant in SPG11.Identification of a Heterozygous SPG11 Mutation by Clinical Exome Sequencing in a Patient With Hereditary Spastic Paraplegia: A Case Report.Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Hereditary Spastic Paraplegia: Clinical and Genetic Hallmarks.Neurobiology of axonal transport defects in motor neuron diseases: Opportunities for translational research?Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.ALS5/SPG11/KIAA1840 mutations cause autosomal recessive axonal Charcot-Marie-Tooth disease.Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
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P2860
Dysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegia
description
2014 թուականի Սեպտեմբերին հրատարակուած գիտական յօդուած
@hyw
2014 թվականի սեպտեմբերին հրատարակված գիտական հոդված
@hy
artículu científicu espublizáu en 2014
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im September 2014 veröffentlichter wissenschaftlicher Artikel
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scientific journal article
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vedecký článok (publikovaný 2014/09/15)
@sk
vědecký článek publikovaný v roce 2014
@cs
wetenschappelijk artikel (gepubliceerd op 2014/09/15)
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наукова стаття, опублікована у вересні 2014
@uk
مقالة علمية (نشرت في 15-9-2014)
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name
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@ast
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@en
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@nl
type
label
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@ast
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@en
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@nl
prefLabel
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@ast
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@en
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@nl
P2093
P2860
P50
P921
P3181
P356
P1476
Dysfunction of spatacsin leads ...... hereditary spastic paraplegia
@en
P2093
Christine Rummel
Daniela Graef
Domenica Saul
Francesc Pérez-Brangulí
Himanshu K Mishra
Jonatan Dorca-Arevalo
Jürgen Winkler
Steven Havlicek
Teja W Groemer
Ursula Schlötzer-Schrehardt
P2860
P304
P3181
P356
10.1093/HMG/DDU200
P577
2014-09-15T00:00:00Z