S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.

about

Peripheral denervation participates in heterotopic ossification in a spinal cord injury model.

P2860

Q41561539-812DC7D8-933D-4E36-A5B2-40B981FF67D7

P2860

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.

Item

http://www.wikidata.org/entity/Q37612662

description

2016 nî lūn-bûn

@nan

2016年の論文

@ja

2016年学术文章

@wuu

2016年学术文章

@zh-cn

2016年学术文章

@zh-hans

2016年学术文章

@zh-my

2016年学术文章

@zh-sg

2016年學術文章

@yue

2016年學術文章

@zh

2016年學術文章

@zh-hant

name

S113R mutation in SLC33A1 lead ...... MP signaling in a mouse model.

@en

S113R mutation in SLC33A1 lead ...... MP signaling in a mouse model.

@nl

type

Item

label

S113R mutation in SLC33A1 lead ...... MP signaling in a mouse model.

@en

S113R mutation in SLC33A1 lead ...... MP signaling in a mouse model.

@nl

prefLabel

S113R mutation in SLC33A1 lead ...... MP signaling in a mouse model.

@en

S113R mutation in SLC33A1 lead ...... MP signaling in a mouse model.

@nl

P1476

S113R mutation in SLC33A1 lead ...... MP signaling in a mouse model.

@en

P2093

Baichun Jiang

http://www.w3.org/2001/XMLSchema#string

Jian Ma

http://www.w3.org/2001/XMLSchema#string

Pengfei Lin

http://www.w3.org/2001/XMLSchema#string

Pingting Liu

http://www.w3.org/2001/XMLSchema#string

Yaoqin Gong

http://www.w3.org/2001/XMLSchema#string

Yinshuai Zhang

http://www.w3.org/2001/XMLSchema#string

P2860

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

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

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

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

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

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

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

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

The BMP coreceptor RGMb promotes while the endogenous BMP antagonist noggin reduces neurite outgrowth and peripheral nerve regeneration by modulating BMP signaling.

Knockdown of Pnpla6 protein results in motor neuron defects in zebrafish.

P304

53-62

http://www.w3.org/2001/XMLSchema#string

P31

scholarly article

P356

10.1242/DMM.026880

http://www.w3.org/2001/XMLSchema#string

P433

http://www.w3.org/2001/XMLSchema#string

P478

http://www.w3.org/2001/XMLSchema#string

P50

Changshun Shao

Wenjie Sun

P577

2016-11-24T00:00:00Z

http://www.w3.org/2001/XMLSchema#dateTime

P698

27935820

http://www.w3.org/2001/XMLSchema#string

P932

5278525

http://www.w3.org/2001/XMLSchema#string

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.

about

P2860

P2860

S113R mutation in SLC33A1 leads to neurodegeneration and augmented BMP signaling in a mouse model.

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P50

P577

P698

P932