Identification and functional analysis of a SLC33A1: c.339T>G (p.Ser113Arg) variant in the original SPG42 family (Q24306772)

SMAD protein signal transduction

GOA release 2020-03-11

1 reference

GOA release 2020-03-11

Changshun Shao

Changshun

Shao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Fei Mao

Fei

Mao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Zhaohui Li

Zhaohui

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Baoyue Zhao

Baoyue

Zhao

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Pengfei Lin

Pengfei

Lin

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Pingting Liu

Pingting

Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Meng Zhai

Meng

Zhai

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Qiji Liu

Qiji

Liu

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Wenjie Sun

Wenjie

Sun

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

Yaoqin Gong

Yaoqin

Gong

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

9 June 2020

language of work or name

English

0 references

publication date

February 2015

0 references

published in

Human Mutation

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9 June 2020

volume

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9 June 2020

issue

1 reference

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9 June 2020

page(s)

240-249

1 reference

https://www.ebi.ac.uk/europepmc/webservices/rest/search?query=EXT_ID:25402622%20AND%20SRC:MED&resulttype=core&format=json

Early defect of transforming growth factor β1 formation in Huntington's disease.

9 June 2020

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Functional conservation of human Spastin in a Drosophila model of autosomal dominant-hereditary spastic paraplegia

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Zebrafish atlastin controls motility and spinal motor axon architecture via inhibition of the BMP pathway

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

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Mutations in SLC33A1 cause a lethal autosomal-recessive disorder with congenital cataracts, hearing loss, and low serum copper and ceruloplasmin

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Molecular and biochemical characterization of a unique mutation in CCS, the human copper chaperone to superoxide dismutase.

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AT-1 is the ER membrane acetyl-CoA transporter and is essential for cell viability

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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

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Orchestrating development and function: retrograde BMP signaling in the Drosophila nervous system

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Stages of embryonic development of the zebrafish

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Drosophila Atlastin regulates the stability of muscle microtubules and is required for synapse development

21 January 2018

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

21 January 2018

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Bone morphogenetic protein signalling and vertebrate nervous system development

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Deficient import of acetyl-CoA into the ER lumen causes neurodegeneration and propensity to infections, inflammation, and cancer

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A Drosophila model of ALS: human ALS-associated mutation in VAP33A suggests a dominant negative mechanism

21 January 2018

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Hereditary spastic paraplegia: clinical features and pathogenetic mechanisms

21 January 2018

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A total of 220 patients with autosomal dominant spastic paraplegia do not display mutations in the SLC33A1 gene (SPG42).

21 January 2018

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Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish

21 January 2018

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The hereditary spastic paraplegia proteins NIPA1, spastin and spartin are inhibitors of mammalian BMP signalling

21 January 2018

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Drosophila spichthyin inhibits BMP signaling and regulates synaptic growth and axonal microtubules

21 January 2018

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Dorsomorphin inhibits BMP signals required for embryogenesis and iron metabolism

21 January 2018

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Gene expressions specifically detected in motor neurons (dynactin 1, early growth response 3, acetyl-CoA transporter, death receptor 5, and cyclin C) differentially correlate to pathologic markers in sporadic amyotrophic lateral sclerosis

21 January 2018

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inferred from DOI database lookup

7 January 2021

based on heuristic

BMP inhibition enhances axonal growth and functional recovery after spinal cord injury

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inferred from DOI database lookup

7 January 2021

based on heuristic

Phosphorylated Smad2/3 immunoreactivity in sporadic and familial amyotrophic lateral sclerosis and its mouse model

1 reference

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