(Q24643486)

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

title

A missense mutation in SLC33A1, which encodes the acetyl-CoA transporter, causes autosomal-dominant spastic paraplegia (SPG42) (English)

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

13

1 reference

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18 January 2020

author name string

Pengfei Lin

1

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Jianwei Li

2

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Qiji Liu

3

1 reference

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18 January 2020

Fei Mao

4

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Jisheng Li

5

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Rongfang Qiu

6

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Huili Hu

7

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Yang Song

8

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Yang Yang

9

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Guimin Gao

10

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

Chuanzhu Yan

11

1 reference

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18 January 2020

Wanling Yang

12

1 reference

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18 January 2020

Yaoqin Gong

14

1 reference

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18 January 2020

language of work or name

English

0 references

publication date

1 December 2008

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

American Journal of Human Genetics

18 January 2020

published in

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

volume

83

1 reference

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18 January 2020

issue

6

1 reference

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18 January 2020

page(s)

752-759

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

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

18 January 2020

cites work

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

NIPA1 Gene Mutations Cause Autosomal Dominant Hereditary Spastic Paraplegia (SPG6)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

A kinesin heavy chain (KIF5A) mutation in hereditary spastic paraplegia (SPG10)

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

Expression cloning and characterization of a cDNA encoding a novel membrane protein required for the formation of O-acetylated ganglioside: a putative acetyl-CoA transporter

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

Novel mutations in the Atlastin gene (SPG3A) in families with autosomal dominant hereditary spastic paraplegia and evidence for late onset forms of HSP linked to the SPG3A locus

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

The acetyl-CoA transporter family SLC33

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

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

7 April 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

Hereditary spastic paraplegias: an update

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

Advances in the hereditary spastic paraplegias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

Classification of the hereditary ataxias and paraplegias

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

The microtubule-severing protein Spastin is essential for axon outgrowth in the zebrafish embryo

27 September 2017

1 reference

https://eutils.ncbi.nlm.nih.gov/entrez/eutils/elink.fcgi?dbfrom=pmc&linkname=pmc_refs_pubmed&retmode=json&id=2668077

Hereditary spastic paraplegia

28 November 2018

1 reference

PubMed

https://pubmed.ncbi.nlm.nih.gov/19061983

inferred from PubMed ID database lookup

12 December 2020

based on heuristic

Identifiers

DOI

10.1016/J.AJHG.2008.11.003

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

1 reference

2 references

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:19061983%20AND%20SRC:MED&resulttype=core&format=json

18 January 2020

PubMed publication ID

19061983

2 references