Selected missense mutations impair frataxin processing in Friedreich ataxia

about

Pharmacological therapeutics in Friedreich ataxia: the present state.Friedreich's Ataxia: Clinical Presentation of a Compound Heterozygote Child with a Rare Nonsense Mutation and Comparison with Previously Published Cases

P2860

Q39445743-973234FF-1F16-4534-8FAF-5CBAD665D627 Q58792861-03BEE556-2DCB-4689-9E41-726699588872

P2860

Selected missense mutations impair frataxin processing in Friedreich ataxia

Item

http://www.wikidata.org/entity/Q38622735

description

2017 nî lūn-bûn

@nan

2017年の論文

@ja

2017年学术文章

@wuu

2017年学术文章

@zh-cn

2017年学术文章

@zh-hans

2017年学术文章

@zh-my

2017年学术文章

@zh-sg

2017年學術文章

@yue

2017年學術文章

@zh

2017年學術文章

@zh-hant

name

Selected missense mutations impair frataxin processing in Friedreich ataxia

@en

type

Item

label

Selected missense mutations impair frataxin processing in Friedreich ataxia

@en

prefLabel

Selected missense mutations impair frataxin processing in Friedreich ataxia

@en

P1476

Selected missense mutations impair frataxin processing in Friedreich ataxia

@en

P2093

Charles J Isaacs

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

David R Lynch

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

Elisia Clark

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

Jill S Butler

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

Marek Napierala

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

P2860

Frataxin interacts functionally with mitochondrial electron transport chain proteins

Atypical Friedreich ataxia caused by compound heterozygosity for a novel missense mutation and the GAA triplet-repeat expansion

Friedreich ataxia: an overview

Crystal structure of human frataxin

Friedreich’s Ataxia Variants I154F and W155R Diminish Frataxin-Based Activation of the Iron–Sulfur Cluster Assembly Complex

Structure–Function Analysis of Friedreich’s Ataxia Mutants Reveals Determinants of Frataxin Binding and Activation of the Fe–S Assembly Complex

The correlation of clinical phenotype in Friedreich ataxia with the site of point mutations in the FRDA gene

Two-step processing of human frataxin by mitochondrial processing peptidase. Precursor and intermediate forms are cleaved at different rates

Maturation of frataxin within mammalian and yeast mitochondria: one-step processing by matrix processing peptidase

Friedreich's ataxia: autosomal recessive disease caused by an intronic GAA triplet repeat expansion

P304

575-584

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

P31

scholarly article

P356

10.1002/ACN3.433

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

P433

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

P478

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

P577

2017-06-29T00:00:00Z

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

P698

28812047

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

P932

5553228

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

Selected missense mutations impair frataxin processing in Friedreich ataxia

about

P2860

P2860

Selected missense mutations impair frataxin processing in Friedreich ataxia

description

name

type

label

prefLabel

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932

P356

P1433

P1476

P2093

P2860

P304

P31

P356

P433

P478

P577

P698

P932