(Q27301370)

English

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8.

scientific article

In more languages

default for all languages

No label defined

No description defined

Statements

scholarly article

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

The spectrum of KIAA0196 variants, and characterization of a murine knockout: implications for the mutational mechanism in hereditary spastic paraplegia type SPG8. (English)

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

WASH complex subunit 5

1 reference

GOA release 2020-03-11

hereditary spastic paraplegia

1 reference

based on heuristic

inferred from title

11

0 references

10

object named as

Ludger Schöls

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

Rebecca Schüle

4

object named as

Rebecca Schüle

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

Christian Beetz

object named as

Christian Beetz

13

0 references

Giovanni Stevanin

object named as

Giovanni Stevanin

9

0 references

Christian A. Hübner

12

object named as

Christian A Hübner

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

6

object named as

Stephan Klebe

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

5

object named as

Sven Klimpe

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

Christiane Frahm

7

object named as

Christiane Frahm

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

author name string

Amir Jahic

1

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

Mukhran Khundadze

2

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

Nadine Jaenisch

3

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

Jan Kassubek

8

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

language of work or name

0 references

publication date

16 November 2015

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

Orphanet Journal of Rare Diseases

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

10

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

1

0 references

147

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

describes a project that uses

1 reference

Europe PubMed Central

11 June 2022

https://www.ebi.ac.uk/europepmc/webservices/rest/PMC4647479/fullTextXML

based on heuristic

inferred from PubMed Central ID database lookup

A hereditary spastic paraplegia mouse model supports a role of ZFYVE26/SPASTIZIN for the endolysosomal system

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

WASH inhibits autophagy through suppression of Beclin 1 ubiquitination

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

The retromer complex - endosomal protein recycling and beyond

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Recruitment of the endosomal WASH complex is mediated by the extended 'tail' of Fam21 binding to the retromer protein Vps35

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

The cargo-selective retromer complex is a recruiting hub for protein complexes that regulate endosomal tubule dynamics

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

WASH and WAVE actin regulators of the Wiskott-Aldrich syndrome protein (WASP) family are controlled by analogous structurally related complexes

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

The Arp2/3 activator WASH controls the fission of endosomes through a large multiprotein complex

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

A FAM21-containing WASH complex regulates retromer-dependent sorting

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Mutations in the KIAA0196 gene at the SPG8 locus cause hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Mutations in the novel mitochondrial protein REEP1 cause hereditary spastic paraplegia type 31

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Novel locus for autosomal dominant hereditary spastic paraplegia, on chromosome 8q

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

A new mathematical model for relative quantification in real-time RT-PCR

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Exome sequencing links corticospinal motor neuron disease to common neurodegenerative disorders

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

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

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Retromer-mediated endosomal protein sorting: all WASHed up!

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Nonsense-mediated mRNA decay: terminating erroneous gene expression

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Spg20-/- mice reveal multimodal functions for Troyer syndrome protein spartin in lipid droplet maintenance, cytokinesis and BMP signaling

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

WASH knockout T cells demonstrate defective receptor trafficking, proliferation, and effector function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Direct evidence for axonal transport defects in a novel mouse model of mutant spastin-induced hereditary spastic paraplegia (HSP) and human HSP patients

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

21 March 2017

Mutation in VPS35 associated with Parkinson's disease impairs WASH complex association and inhibits autophagy

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

A novel mutation in KIAA0196: identification of a gene involved in Ritscher-Schinzel/3C syndrome in a First Nations cohort

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

A spastic paraplegia mouse model reveals REEP1-dependent ER shaping.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

Hereditary spastic paraplegia: clinico-pathologic features and emerging molecular mechanisms

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

WASH is required for lysosomal recycling and efficient autophagic and phagocytic digestion

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

Trafficking defects in WASH-knockout fibroblasts originate from collapsed endosomal and lysosomal networks

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

Genetics of hereditary spastic paraplegias

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

Establishing Primary Adult Fibroblast Cultures From Rodents

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

Strumpellin is a novel valosin-containing protein binding partner linking hereditary spastic paraplegia to protein aggregation diseases.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

REEP1 mutation spectrum and genotype/phenotype correlation in hereditary spastic paraplegia type 31.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 September 2017

Exome sequencing expands the mutational spectrum of SPG8 in a family with spasticity responsive to L-DOPA treatment

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

31 May 2018

The hereditary spastic paraplegia protein strumpellin: characterisation in neurons and of the effect of disease mutations on WASH complex assembly and function

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

31 May 2018

Exon deletions of SPG4 are a frequent cause of hereditary spastic paraplegia

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

31 May 2018

Meta-analysis of age at onset in spastin-associated hereditary spastic paraplegia provides no evidence for a correlation with mutational class.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

31 May 2018

Pure adult-onset spastic paraplegia caused by a novel mutation in the KIAA0196 (SPG8) gene

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

Impacts of lesion severity and tyrosine kinase receptor B deficiency on functional outcome of femoral nerve injury assessed by a novel single-frame motion analysis in mice

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

Synaptic glutamate release is modulated by the Na+ -driven Cl-/HCO₃⁻ exchanger Slc4a8.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

Analysis of CYP7B1 in non-consanguineous cases of hereditary spastic paraplegia

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

Spinocerebellar ataxia type 11 (SCA11) is an uncommon cause of dominant ataxia among French and German kindreds.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

Targeted disruption of the Mast syndrome gene SPG21 in mice impairs hind limb function and alters axon branching in cultured cortical neurons

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

A mutation of spastin is responsible for swellings and impairment of transport in a region of axon characterized by changes in microtubule composition.

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

REEP1 mutations in SPG31: frequency, mutational spectrum, and potential association with mitochondrial morpho-functional dysfunction

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

Axonal degeneration in paraplegin-deficient mice is associated with abnormal mitochondria and impairment of axonal transport

1 reference

https://api.crossref.org/works/10.1186%2FS13023-015-0359-X

21 January 2018

A novel KIAA0196 (SPG8) mutation in a Chinese family with spastic paraplegia.

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=4647479

28 November 2018

Molecular epidemiology and clinical spectrum of hereditary spastic paraplegia in the Japanese population based on comprehensive mutational analyses

1 reference

https://pubmed.ncbi.nlm.nih.gov/26572744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

A novel strumpellin mutation and potential pitfalls in the molecular diagnosis of hereditary spastic paraplegia type SPG8

1 reference

https://pubmed.ncbi.nlm.nih.gov/26572744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia

1 reference

https://pubmed.ncbi.nlm.nih.gov/26572744

12 December 2020

based on heuristic

inferred from PubMed ID database lookup

Identifiers

10.1186/S13023-015-0359-X

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

Dimensions Publication ID

0 references

OpenCitations bibliographic resource ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PMC publication ID

1 reference

Consolidated OpenCitations Corpus – April 2017

OpenCitations bibliographic resource ID

PubMed publication ID

1 reference

Europe PubMed Central

PubMed publication ID

26 June 2017

ResearchGate publication ID

0 references

Sitelinks

Wikipedia(0 entries)

Wikibooks(0 entries)

Wikinews(0 entries)

Wikiquote(0 entries)

Wikisource(0 entries)

Wikiversity(0 entries)

Wikivoyage(0 entries)

Wiktionary(0 entries)

Multilingual sites(0 entries)

Retrieved from "https://www.wikidata.org/w/index.php?title=Q27301370&oldid=2177337919"