(Q34132338)

31 July 2017

title

Missense mutations in the AFG3L2 proteolytic domain account for ∼1.5% of European autosomal dominant cerebellar ataxias (English)

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31 July 2017

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17

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Cecilia Mancini

Cecilia Mancini

5

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Alfredo Brusco

Alfredo Brusco

20

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Giovanni Stevanin

Giovanni Stevanin

2

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Alexandra Durr

19

Alexandra Dürr

1 reference

31 July 2017

9

Sylvie Forlani

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31 July 2017

12

Cécile Zaros

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31 July 2017

1

Claudia Cagnoli

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31 July 2017

11

Patrizia Pappi

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31 July 2017

14

Pascale Ribai

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31 July 2017

18

Nicola Migone

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31 July 2017

13

Isabelle Leber

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31 July 2017

Alessandro Brussino

3

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31 July 2017

Marco Barberis

4

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31 July 2017

Russell L Margolis

6

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31 July 2017

Susan E Holmes

7

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31 July 2017

Marcello Nobili

8

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31 July 2017

Sergio Padovan

10

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31 July 2017

Luisa Pugliese

15

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31 July 2017

Corrado Assalto

16

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31 July 2017

publication date

1 October 2010

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31 July 2017

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31 July 2017

volume

31

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31 July 2017

issue

10

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31 July 2017

page(s)

1117-1124

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The YTA10-12 complex, an AAA protease with chaperone-like activity in the inner membrane of mitochondria

31 July 2017

cites work

1 reference

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7 January 2021

Loss of m-AAA protease in mitochondria causes complex I deficiency and increased sensitivity to oxidative stress in hereditary spastic paraplegia

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7 January 2021

An intersubunit signaling network coordinates ATP hydrolysis by m-AAA proteases

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7 January 2021

Identification and characterization of AFG3L2, a novel paraplegin-related gene

1 reference

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7 January 2021

The crystal structure of apo-FtsH reveals domain movements necessary for substrate unfolding and translocation

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

SCA28, a novel form of autosomal dominant cerebellar ataxia on chromosome 18p11.22-q11.2.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

ESEfinder: A web resource to identify exonic splicing enhancers

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7 January 2021

Spastic paraplegia and OXPHOS impairment caused by mutations in paraplegin, a nuclear-encoded mitochondrial metalloprotease

1 reference

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7 January 2021

Mutations in the mitochondrial protease gene AFG3L2 cause dominant hereditary ataxia SCA28.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Early onset and slow progression of SCA28, a rare dominant ataxia in a large four-generation family with a novel AFG3L2 mutation

1 reference

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7 January 2021

A novel two-step mechanism for removal of a mitochondrial signal sequence involves the mAAA complex and the putative rhomboid protease Pcp1.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Spinocerebellar ataxia type 14: study of a family with an exon 5 mutation in the PRKCG gene

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Ataxias with autosomal, X-chromosomal or maternal inheritance.

1 reference

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7 January 2021

PoPMuSiC, an algorithm for predicting protein mutant stability changes: application to prion proteins.

1 reference

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7 January 2021

Predicting changes in the stability of proteins and protein complexes: a study of more than 1000 mutations

1 reference

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7 January 2021

Expansion of a novel CAG trinucleotide repeat in the 5' region of PPP2R2B is associated with SCA12.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Mutations in TTBK2, encoding a kinase implicated in tau phosphorylation, segregate with spinocerebellar ataxia type 11.

1 reference

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7 January 2021

Spectrin mutations cause spinocerebellar ataxia type 5.

1 reference

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7 January 2021

A survey of spinocerebellar ataxia in South Brazil - 66 new cases with Machado-Joseph disease, SCA7, SCA8, or unidentified disease-causing mutations.

1 reference

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7 January 2021

Protein structure alignment using environmental profiles.

1 reference

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7 January 2021

Identification of significant regional genetic variations using continuous CNV values in aCGH data.

1 reference

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7 January 2021

New mutations in protein kinase Cgamma associated with spinocerebellar ataxia type 14.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Making optimal use of empirical energy functions: force-field parameterization in crystal space

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

The alternating power stroke of a 6-cylinder AAA protease chaperone engine

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Membrane protein degradation by AAA proteases in mitochondria: extraction of substrates from either membrane surface

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Chaperone-like activity of the AAA domain of the yeast Yme1 AAA protease

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Analysis of Relative Gene Expression Data Using Real-Time Quantitative PCR and the 2−ΔΔCT Method

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

The mitochondrial protease AFG3L2 is essential for axonal development

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Haploinsufficiency of AFG3L2, the gene responsible for spinocerebellar ataxia type 28, causes mitochondria-mediated Purkinje cell dark degeneration.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Spinocerebellar ataxia type 28: a novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Comparative protein structure modeling of genes and genomes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Spinocerebellar ataxia type 10: a disease caused by a large ATTCT repeat expansion

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Unbalanced whole arm translocation resulting in loss of 18p in dystonia.

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Using multiple structure alignments, fast model building, and energetic analysis in fold recognition and homology modeling

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Global variation in copy number in the human genome

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Improved splice site detection in Genie

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Spinocerebellar ataxia type 31 is associated with "inserted" penta-nucleotide repeats containing (TGGAA)n

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

An increased specificity score matrix for the prediction of SF2/ASF-specific exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Frequency of spinocerebellar ataxia types 1, 2, 3, 6, and 7 in Australian patients with spinocerebellar ataxia

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Controlled destruction: AAA+ ATPases in protein degradation from bacteria to eukaryotes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

WHAT IF: a molecular modeling and drug design program

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Exon inclusion is dependent on predictable exonic splicing enhancers

1 reference

https://api.crossref.org/works/10.1002%2FHUMU.21342

7 January 2021

Identifiers

DOI

10.1002/HUMU.21342

1 reference

release_2dvqyrbzjjckzkodun3cdnomqy

31 July 2017

Fatcat ID

1 reference

Fatcat

https://api.fatcat.wiki/v0/release/2dvqyrbzjjckzkodun3cdnomqy

24 November 2022

mapped directly with Wikidata item

1 reference