Concepedia

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

Daniela Di Bella, Federico Lazzaro, Alfredo Brusco, Massimo Plumari, Giorgio Battaglia, Annalisa Pastore, Adele Finardi, Claudia Cagnoli, Filippo Tempia, Marina Frontali,

Nature Genetics · 2010 · 344 citations · 33 references

DOI

Concepts

References

33

SWISS-MODEL: an automated protein homology-modeling server

Torsten Schwede · Nucleic Acids Research · 2003 · 5.7K citations · Full text

, , +15

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 829 citations · Full text

, , +16

Regulation of OPA1 processing and mitochondrial fusion by <i>m</i> -AAA protease isoenzymes and OMA1

Sarah Ehses, Ines Raschke, Giuseppe Mancuso et al. · The Journal of Cell Biology · 2009 · 573 citations · Full text

, , +16

THE CLINICAL FEATURES AND CLASSIFICATION OF THE LATE ONSET AUTOSOMAL DOMINANT CEREBELLAR ATAXIAS

A E Harding · Brain · 1982 · 405 citations

, , +15

The m-AAA Protease Defective in Hereditary Spastic Paraplegia Controls Ribosome Assembly in Mitochondria

Mark Nolden, Sarah Ehses, Mirko Koppen et al. · Cell · 2005 · 401 citations · Full text

, , +12