SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia. (Q34140542)

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11 November 2019

title

SPG20 is mutated in Troyer syndrome, an hereditary spastic paraplegia (English)

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11 November 2019

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5

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11 November 2019

Christos Proukakis

3

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11 November 2019

Francesca D Ciccarelli

6

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11 November 2019

author name string

Heema Patel

1

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11 November 2019

Harold Cross

2

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11 November 2019

Ruth Hershberger

4

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11 November 2019

Michael A Patton

7

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11 November 2019

Victor A McKusick

8

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11 November 2019

Andrew H Crosby

9

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11 November 2019

language of work or name

English

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publication date

22 July 2002

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11 November 2019

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11 November 2019

volume

31

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11 November 2019

issue

4

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11 November 2019

page(s)

347-348

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https://scigraph.springernature.com/pub.10.1038/ng937

11 November 2019

exact match

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cites work

The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12-q14, with evidence for genetic heterogeneity within this subtype

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7 January 2021

The Troyer syndrome. A recessive form of spastic paraplegia with distal muscle wasting

1 reference

7 January 2021

Overexpression of a novel sorting nexin, SNX15, affects endosome morphology and protein trafficking

1 reference

7 January 2021

Endosomal transport function in yeast requires a novel AAA-type ATPase, Vps4p

1 reference

7 January 2021

Mammalian cells express two VPS4 proteins both of which are involved in intracellular protein trafficking

1 reference

7 January 2021

The mouse SKD1, a homologue of yeast Vps4p, is required for normal endosomal trafficking and morphology in mammalian cells

1 reference

7 January 2021

Translocation and clustering of endosomes and lysosomes depends on microtubules

1 reference

7 January 2021

Cruising along microtubule highways: how membranes move through the secretory pathway

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7 January 2021

Spastin, the protein mutated in autosomal dominant hereditary spastic paraplegia, is involved in microtubule dynamics

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7 January 2021

1 reference

7 January 2021

Moving on to the cargo problem of microtubule-dependent motors in neurons

1 reference

7 January 2021

A conserved sorting-associated protein is mutant in chorea-acanthocytosis

1 reference

7 January 2021

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

1 reference

7 January 2021

Niemann-Pick C1 disease gene: homology to mediators of cholesterol homeostasis

1 reference

7 January 2021

Identifiers

DOI

10.1038/NG937

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11 November 2019

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