(Q34102568)

31 July 2017

title

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

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31 July 2017

Annalisa Pastore

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31 July 2017

Stefania Magri

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Adele Finardi

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Federico Lazzaro

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Enrica Boda

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Liana Veneziano

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Marco Muzi-Falconi

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Barbara Castellotti

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Filippo Tempia

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Daniela Di Bella

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Paolo Plevani

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Cinzia Gellera

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Alfredo Brusco

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Caterina Mariotti

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31 July 2017

Massimo Plumari

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31 July 2017

Giorgio Battaglia

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31 July 2017

Claudia Cagnoli

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31 July 2017

Marina Frontali

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31 July 2017

Tiziana Sacco

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31 July 2017

Alessandro Brussino

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31 July 2017

Florian Bonn

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31 July 2017

Silvia Baratta

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31 July 2017

Valentina Fracasso

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31 July 2017

Thomas Langer

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31 July 2017

Stefano Di Donato

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31 July 2017

Franco Taroni

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31 July 2017

language of work or name

English

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publication date

7 March 2010

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31 July 2017

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31 July 2017

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31 July 2017

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31 July 2017

page(s)

313-321

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The m-AAA protease defective in hereditary spastic paraplegia controls ribosome assembly in mitochondria

31 July 2017

cites work

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12 December 2020

Molecular genetics of hereditary spinocerebellar ataxia: mutation analysis of spinocerebellar ataxia genes and CAG/CTG repeat expansion detection in 225 Italian families

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12 December 2020

Preparation of respiratory chain complexes from Saccharomyces cerevisiae wild-type and mutant mitochondria : activity measurement and subunit composition analysis

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AAA+ proteins and substrate recognition, it all depends on their partner in crime

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Spinocerebellar ataxias: an update

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12 December 2020

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

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12 December 2020

Characterization of mutants of the Escherichia coli AAA protease, FtsH, carrying a mutation in the central pore region.

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12 December 2020

Pathways to motor incoordination: the inherited ataxias

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12 December 2020

Variable and tissue-specific subunit composition of mitochondrial m-AAA protease complexes linked to hereditary spastic paraplegia

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12 December 2020

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

1 reference

12 December 2020

Quality control of mitochondria: protection against neurodegeneration and ageing

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12 December 2020

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

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12 December 2020

AAA+ proteins: have engine, will work

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12 December 2020

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12 December 2020

Properties and expression of Kv3 channels in cerebellar Purkinje cells

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12 December 2020

Trinucleotide Repeat Disorders

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12 December 2020

AAA proteases in mitochondria: diverse functions of membrane-bound proteolytic machines

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12 December 2020

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

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12 December 2020

Autocatalytic processing of m-AAA protease subunits in mitochondria

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12 December 2020

Recent advances in the genetics of spastic paraplegias

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12 December 2020

Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias

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12 December 2020

Phosphorylation of the budding yeast 9-1-1 complex is required for Dpb11 function in the full activation of the UV-induced DNA damage checkpoint

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12 December 2020

Cellular functions, mechanism of action, and regulation of FtsH protease

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12 December 2020

Protein degradation within mitochondria: versatile activities of AAA proteases and other peptidases

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12 December 2020

The clinical features and classification of the late onset autosomal dominant cerebellar ataxias. A study of 11 families, including descendants of the 'the Drew family of Walworth'.

1 reference

12 December 2020

Substrate specific consequences of central pore mutations in the i-AAA protease Yme1 on substrate engagement

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12 December 2020

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

1 reference

12 December 2020

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

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12 December 2020

Conserved Pore Residues in the AAA Protease FtsH Are Important for Proteolysis and Its Coupling to ATP Hydrolysis

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12 December 2020

The mitochondrial protease AFG3L2 is essential for axonal development

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12 December 2020

Characterization of peptides released from mitochondria: evidence for constant proteolysis and peptide efflux

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12 December 2020

Structure of the whole cytosolic region of ATP-dependent protease FtsH.

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12 December 2020

Regulation of OPA1 processing and mitochondrial fusion by m-AAA protease isoenzymes and OMA1

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12 December 2020

Mitochondrial disorders in the nervous system

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12 December 2020

Frataxin gene point mutations in Italian Friedreich ataxia patients

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12 December 2020

AAA+ ATPases: achieving diversity of function with conserved machinery

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12 December 2020

Mgr3p and Mgr1p are adaptors for the mitochondrial i-AAA protease complex

1 reference

12 December 2020

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

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12 December 2020

Substrate recognition by AAA+ ATPases: distinct substrate binding modes in ATP-dependent protease Yme1 of the mitochondrial intermembrane space

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12 December 2020

Mitochondrial fusion and function in Charcot-Marie-Tooth type 2A patient fibroblasts with mitofusin 2 mutations

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12 December 2020

m-AAA protease-driven membrane dislocation allows intramembrane cleavage by rhomboid in mitochondria

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12 December 2020

SWISS-MODEL: An automated protein homology-modeling server

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12 December 2020

NMDA receptor composition differs among anatomically diverse malformations of cortical development.

1 reference

12 December 2020

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

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12 December 2020

The pathogenesis of spinocerebellar ataxia

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12 December 2020

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

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12 December 2020

The formation of respiratory chain complexes in mitochondria is under the proteolytic control of the m-AAA protease

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12 December 2020

Identifiers

DOI

10.1038/NG.544

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31 July 2017

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