Cellular distribution and subcellular localization of spatacsin and spastizin, two proteins involved in hereditary spastic paraplegia (Q24301499)

SPG11 vesicle trafficking associated, spatacsin

GOA release 2020-03-11

1 reference

hereditary spastic paraplegia

GOA release 2020-03-11

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11

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Reena Prity Murmu

Reena Prity Murmu

1

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Frédéric Darios

Frédéric Darios

12

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Giovanni Stevanin

Giovanni Stevanin

13

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Typhaine Esteves

4

Typhaine Esteves

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Marie-Paule Muriel

5

Marie-Paule Muriel

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Elodie Martin

2

Elodie Martin

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Agnès Rastetter

3

Agnès Rastetter

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Khalid Hamid El Hachimi

6

Khalid Hamid El Hachimi

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Charles Duyckaerts

10

Charles Duyckaerts

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author name string

Paola Silvia Denora

7

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Aurélien Dauphin

8

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José Carlos Fernandez

Molecular and Cellular Neuroscience

9

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language of work or name

English

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publication date

July 2011

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published in

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volume

47

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issue

3

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page(s)

191-202

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cites work

Hereditary spastic paraplegia with mental impairment and thin corpus callosum in Tunisia: SPG11, SPG15, and further genetic heterogeneity

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Neuroblastoma x spinal cord (NSC) hybrid cell lines resemble developing motor neurons

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SPG11 mutations cause Kjellin syndrome, a hereditary spastic paraplegia with thin corpus callosum and central retinal degeneration

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Long-term course and mutational spectrum of spatacsin-linked spastic paraplegia

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Screening of ARHSP-TCC patients expands the spectrum of SPG11 mutations and includes a large scale gene deletion

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SPG11 spastic paraplegia. A new cause of juvenile parkinsonism.

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Identification of a heterozygous genomic deletion in the spatacsin gene in SPG11 patients using high-resolution comparative genomic hybridization.

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Recent advances in the genetics of spastic paraplegias

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The neuropathology of hereditary spastic paraparesis

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Widespread thalamic and cerebellar degeneration in a patient with a complicated hereditary spastic paraplegia (HSP).

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Identification of the SPG15 gene, encoding spastizin, as a frequent cause of complicated autosomal-recessive spastic paraplegia, including Kjellin syndrome

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Advances in the hereditary spastic paraplegias

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Spastic paraplegia with thinning of the corpus callosum and white matter abnormalities: further mutations and relative frequency in ZFYVE26/SPG15 in the Italian population.

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Kjellin Syndrome: Long-term Neuro-ophthalmologic Follow-up and Novel Mutations in the SPG11 Gene

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Traffic accidents: molecular genetic insights into the pathogenesis of the hereditary spastic paraplegias

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Classification of the hereditary ataxias and paraplegias

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Phosphoinositide-binding domains: Functional units for temporal and spatial regulation of intracellular signalling

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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

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Structural basis for recognition of acidic-cluster dileucine sequence by GGA1

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Mutations in SPG11, encoding spatacsin, are a major cause of spastic paraplegia with thin corpus callosum.

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Cellular functions of phosphatidylinositol 3-phosphate and FYVE domain proteins

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The FYVE domain in Smad anchor for receptor activation (SARA) is sufficient for localization of SARA in early endosomes and regulates TGF-beta/Smad signalling

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Sequential treatment of SH-SY5Y cells with retinoic acid and brain-derived neurotrophic factor gives rise to fully differentiated, neurotrophic factor-dependent, human neuron-like cells

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Complicated hereditary spastic paraplegia with thin corpus callosum (HSP-TCC) and childhood onset.

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Hereditary spastic paraplegias

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Establishment of a noradrenergic clonal line of rat adrenal pheochromocytoma cells which respond to nerve growth factor

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Endofin, an endosomal FYVE domain protein

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Is the transportation highway the right road for hereditary spastic paraplegia?

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Mutations in SPG11 are frequent in autosomal recessive spastic paraplegia with thin corpus callosum, cognitive decline and lower motor neuron degeneration.

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Gamma-adaptin interacts directly with Rabaptin-5 through its ear domain.

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The extent of axonal loss in the long tracts in hereditary spastic paraplegia

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Tunisian hereditary spastic paraplegias: clinical variability supported by genetic heterogeneity

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SPG11--the most common type of recessive spastic paraplegia in Norway?

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ATM and ATR substrate analysis reveals extensive protein networks responsive to DNA damage

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Strümpell's familial spastic paraplegia: genetics and neuropathology

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SPG11 mutations are common in familial cases of complicated hereditary spastic paraplegia

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SPG15 is the second most common cause of hereditary spastic paraplegia with thin corpus callosum

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Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.

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The structure and function of GGAs, the traffic controllers at the TGN sorting crossroads

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A genome-scale DNA repair RNAi screen identifies SPG48 as a novel gene associated with hereditary spastic paraplegia

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Identifiers

DOI

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Fatcat ID

release_buzavccknnhrbij77agwfbxxlu

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/buzavccknnhrbij77agwfbxxlu

24 November 2022