(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

6

Annalisa Pastore

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31 July 2017

Stefania Magri

21

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Adele Finardi

Adele Finardi

7

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Federico Lazzaro

Federico Lazzaro

2

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Enrica Boda

Enrica Boda

13

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Liana Veneziano

Liana Veneziano

11

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Marco Muzi-Falconi

Marco Muzi-Falconi

25

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Barbara Castellotti

Barbara Castellotti

16

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Filippo Tempia

Filippo Tempia

9

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Daniela Di Bella

Daniela Di Bella

1

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Paolo Plevani

Paolo Plevani

23

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Cinzia Gellera

Cinzia Gellera

19

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Alfredo Brusco

Alfredo Brusco

3

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Caterina Mariotti

18

Caterina Mariotti

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31 July 2017

Massimo Plumari

4

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31 July 2017

Giorgio Battaglia

5

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31 July 2017

Claudia Cagnoli

8

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31 July 2017

Marina Frontali

10

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31 July 2017

Tiziana Sacco

12

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31 July 2017

Alessandro Brussino

14

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31 July 2017

Florian Bonn

15

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31 July 2017

Silvia Baratta

17

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31 July 2017

Valentina Fracasso

20

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31 July 2017

Thomas Langer

22

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31 July 2017

Stefano Di Donato

24

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31 July 2017

Franco Taroni

26

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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

volume

42

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31 July 2017

issue

4

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31 July 2017

page(s)

313-321

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https://scigraph.springernature.com/pub.10.1038/ng.544

31 July 2017

exact match

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cites work

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

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

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12 December 2020

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

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12 December 2020

Spinocerebellar ataxias: an update

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Pathways to motor incoordination: the inherited ataxias

1 reference

12 December 2020

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

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

AAA+ proteins: have engine, will work

1 reference

12 December 2020

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12 December 2020

Properties and expression of Kv3 channels in cerebellar Purkinje cells.

1 reference

12 December 2020

Trinucleotide Repeat Disorders

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Autocatalytic processing of m-AAA protease subunits in mitochondria

1 reference

12 December 2020

Recent advances in the genetics of spastic paraplegias

1 reference

12 December 2020

Cellular and molecular pathways triggering neurodegeneration in the spinocerebellar ataxias

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

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

1 reference

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.

1 reference

12 December 2020

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

1 reference

12 December 2020

The mitochondrial protease AFG3L2 is essential for axonal development

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Mitochondrial disorders in the nervous system

1 reference

12 December 2020

Frataxin gene point mutations in Italian Friedreich ataxia patients

1 reference

12 December 2020

AAA+ ATPases: achieving diversity of function with conserved machinery

1 reference

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

SWISS-MODEL: An automated protein homology-modeling server

1 reference

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

1 reference

12 December 2020

The pathogenesis of spinocerebellar ataxia

1 reference

12 December 2020

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

1 reference

12 December 2020

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

1 reference

12 December 2020

Identifiers

DOI

10.1038/NG.544

1 reference

31 July 2017

1 reference