Respiratory dysfunction by AFG3L2 deficiency causes decreased mitochondrial calcium uptake via organellar network fragmentation

A forty-kilodalton protein of the inner membrane is the mitochondrial calcium uniporter

(2011) Diego De Stefani et al.   NATURE

Whole-Exome Sequencing Identifies Homozygous AFG3L2 Mutations in a Spastic Ataxia-Neuropathy Syndrome Linked to Mitochondrial m-AAA Proteases

(2011) Tyler Mark Pierson et al.   PLoS Genetics

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

(2010) Ulf Edener et al.   EUROPEAN JOURNAL OF HUMAN GENETICS

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

(2010) Claudia Cagnoli et al.   HUMAN MUTATION

Imaging Interorganelle Contacts and Local Calcium Dynamics at the ER-Mitochondrial Interface

(2010) György Csordás et al.   MOLECULAR CELL

MICU1 encodes a mitochondrial EF hand protein required for Ca2+ uptake

(2010) Fabiana Perocchi et al.   NATURE

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

(2010) Daniela Di Bella et al.   NATURE GENETICS

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

(2009) Sarah Ehses et al.   JOURNAL OF CELL BIOLOGY

Haploinsufficiency of AFG3L2, the Gene Responsible for Spinocerebellar Ataxia Type 28, Causes Mitochondria-Mediated Purkinje Cell Dark Degeneration

(2009) F. Maltecca et al.   JOURNAL OF NEUROSCIENCE

Quality control of mitochondria: protection against neurodegeneration and ageing

(2008) Takashi Tatsuta et al.   EMBO JOURNAL

Characterization of OPA1 isoforms isolated from mouse tissues

(2008) Vasudheva Reddy Akepati et al.   JOURNAL OF NEUROCHEMISTRY

The Mitochondrial Protease AFG3L2 Is Essential for Axonal Development

(2008) F. Maltecca et al.   JOURNAL OF NEUROSCIENCE

Opa1-Mediated Cristae Opening Is Bax/Bak and BH3 Dependent, Required for Apoptosis, and Independent of Bak Oligomerization

(2008) Ryuji Yamaguchi et al.   MOLECULAR CELL

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE