Is the transportation highway the right road for hereditary spastic paraplegia? (Q34923057)

5 August 2017

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title

Is the transportation highway the right road for hereditary spastic paraplegia? (English)

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5 August 2017

2

Christos Proukakis

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5 August 2017

Andrew H Crosby

1

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5 August 2017

language of work or name

English

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publication date

24 September 2002

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American Journal of Human Genetics

5 August 2017

published in

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5 August 2017

volume

71

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5 August 2017

issue

5

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5 August 2017

page(s)

1009-1016

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Hereditary (familial) spastic paraplegia; further clinical and pathologic observations.

5 August 2017

cites work

1 reference

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8 July 2018

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

8 July 2018

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Further evidence that SPG3A gene mutations cause autosomal dominant hereditary spastic paraplegia

8 July 2018

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8 July 2018

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Identification and characterization of RPK118, a novel sphingosine kinase-1-binding protein

8 July 2018

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8 July 2018

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Hereditary spastic paraplegia SPG13 is associated with a mutation in the gene encoding the mitochondrial chaperonin Hsp60

8 July 2018

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

8 July 2018

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Mutations in a newly identified GTPase gene cause autosomal dominant hereditary spastic paraplegia

8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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8 July 2018

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8 July 2018

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

8 July 2018

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Molecular basis of inherited spastic paraplegias

8 July 2018

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Identification and expression analysis of spastin gene mutations in hereditary spastic paraplegia

8 July 2018

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Cessation of rapid late endosomal tubulovesicular trafficking in Niemann-Pick type C1 disease

8 July 2018

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Endocytic traffic in polarized epithelial cells: role of the actin and microtubule cytoskeleton

8 July 2018

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

8 July 2018

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Identification and characterization of SNX15, a novel sorting nexin involved in protein trafficking

8 July 2018

1 reference

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Hereditary spastic paraparesis: a review of new developments.

8 July 2018

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Microtubule-based transport systems in neurons: the roles of kinesins and dyneins

8 July 2018

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Spectrum of SPG4 mutations in autosomal dominant spastic paraplegia

8 July 2018

1 reference

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The dynamin family of mechanoenzymes: pinching in new places

8 July 2018

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

8 July 2018

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ATPase-defective mammalian VPS4 localizes to aberrant endosomes and impairs cholesterol trafficking

8 July 2018

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Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

8 July 2018

1 reference

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Dynamics of tubulovesicular recycling endosomes in hippocampal neurons

8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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8 July 2018

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The Vps4p AAA ATPase regulates membrane association of a Vps protein complex required for normal endosome function

8 July 2018

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Sequence analysis of the AAA protein family

8 July 2018

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

8 July 2018

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CRASH syndrome: clinical spectrum of corpus callosum hypoplasia, retardation, adducted thumbs, spastic paraparesis and hydrocephalus due to mutations in one single gene, L1.

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385081

Loss of function of Saccharomyces cerevisiae kinesin-related CIN8 and KIP1 is suppressed by KAR3 motor domain mutations

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385081

X-linked spastic paraplegia (SPG1), MASA syndrome and X-linked hydrocephalus result from mutations in the L1 gene

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385081

Dynamin self-assembles into rings suggesting a mechanism for coated vesicle budding

8 July 2018

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

8 July 2018

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Strümpell's familial spastic paraplegia: genetics and neuropathology

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385081

Translocation and clustering of endosomes and lysosomes depends on microtubules

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385081

The groES and groEL heat shock gene products of Escherichia coli are essential for bacterial growth at all temperatures

8 July 2018

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https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385081

X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus

8 July 2018

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=385081

Axonal swellings and degeneration in mice lacking the major proteolipid of myelin

28 July 2018

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Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease

26 October 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/12355399

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1086/344206

1 reference

5 August 2017

1 reference

5 August 2017

1 reference