Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia
about
Adaptor protein complexes AP-4 and AP-5: new players in endosomal trafficking and progressive spastic paraplegiaA hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal systemDysfunction of spatacsin leads to axonal pathology in SPG11-linked hereditary spastic paraplegiaSoy glyceollins regulate transcript abundance in the female mouse brainInteraction between AP-5 and the hereditary spastic paraplegia proteins SPG11 and SPG15.Spastic paraplegia proteins spastizin and spatacsin mediate autophagic lysosome reformation.Loss of spatacsin function alters lysosomal lipid clearance leading to upper and lower motor neuron degenerationSouffle/Spastizin controls secretory vesicle maturation during zebrafish oogenesis.Lysosomal abnormalities in hereditary spastic paraplegia types SPG15 and SPG11.Alteration of fatty-acid-metabolizing enzymes affects mitochondrial form and function in hereditary spastic paraplegia.Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage diseaseMutations in DDHD2, encoding an intracellular phospholipase A(1), cause a recessive form of complex hereditary spastic paraplegia.Neurotransmitter abnormalities and response to supplementation in SPG11.Genetics of amyotrophic lateral sclerosis: an update.Defective autophagy in spastizin mutated patients with hereditary spastic paraparesis type 15Cellular pathways of hereditary spastic paraplegia.Congenital disorders of autophagy: an emerging novel class of inborn errors of neuro-metabolism.Modeling Axonal Defects in Hereditary Spastic Paraplegia with Human Pluripotent Stem Cells.Reticulon-like-1, the Drosophila orthologue of the hereditary spastic paraplegia gene reticulon 2, is required for organization of endoplasmic reticulum and of distal motor axons.Immunohistochemical localization of spatacsin in α-synucleinopathies.Microstructural integrity of cerebral fiber tracts in hereditary spastic paraparesis with SPG11 mutation.Identification of pathogenic gene variants in small families with intellectually disabled siblings by exome sequencing.Exome sequencing is a useful diagnostic tool for complicated forms of hereditary spastic paraplegia.Spastizin mutation in hereditary spastic paraplegia with thin corpus callosum.Motor neuron degeneration in spastic paraplegia 11 mimics amyotrophic lateral sclerosis lesions.Alu elements mediate large SPG11 gene rearrangements: further spatacsin mutations
P2860
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P2860
Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia
description
2011 nî lūn-bûn
@nan
2011 թուականի Յուլիսին հրատարակուած գիտական յօդուած
@hyw
2011 թվականի հուլիսին հրատարակված գիտական հոդված
@hy
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
name
Cellular distribution and subc ...... hereditary spastic paraplegia
@ast
Cellular distribution and subc ...... hereditary spastic paraplegia
@en
Cellular distribution and subc ...... hereditary spastic paraplegia
@en-gb
Cellular distribution and subc ...... hereditary spastic paraplegia
@nl
type
label
Cellular distribution and subc ...... hereditary spastic paraplegia
@ast
Cellular distribution and subc ...... hereditary spastic paraplegia
@en
Cellular distribution and subc ...... hereditary spastic paraplegia
@en-gb
Cellular distribution and subc ...... hereditary spastic paraplegia
@nl
prefLabel
Cellular distribution and subc ...... hereditary spastic paraplegia
@ast
Cellular distribution and subc ...... hereditary spastic paraplegia
@en
Cellular distribution and subc ...... hereditary spastic paraplegia
@en-gb
Cellular distribution and subc ...... hereditary spastic paraplegia
@nl
P2093
P50
P1476
Cellular distribution and subc ...... hereditary spastic paraplegia
@en
P2093
Agnès Rastetter
Aurélien Dauphin
Charles Duyckaerts
Elodie Martin
José Carlos Fernandez
Khalid Hamid El Hachimi
Marie-Paule Muriel
Paola Silvia Denora
Typhaine Esteves
P304
P356
10.1016/J.MCN.2011.04.004
P407
P577
2011-07-01T00:00:00Z