Purkinje neuron Ca2+ influx reduction rescues ataxia in SCA28 model

Partial deletion of AFG3L2 causing spinocerebellar ataxia type 28

(2014) K. Smets et al.   NEUROLOGY

Autosomal-Recessive Congenital Cerebellar Ataxia Is Caused by Mutations in Metabotropic Glutamate Receptor 1

(2012) Velina Guergueltcheva et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Ca2+ Signaling in Cerebellar Purkinje Neurons—Editorial

(2012) Donna Gruol et al.   CEREBELLUM

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

(2012) F. Maltecca et al.   HUMAN MOLECULAR GENETICS

Mitochondria, calcium-dependent neuronal death and neurodegenerative disease

(2012) Michael R. Duchen   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Mitochondrial Ca2+ homeostasis: mechanism, role, and tissue specificities

(2012) Paola Pizzo et al.   PFLUGERS ARCHIV-EUROPEAN JOURNAL OF PHYSIOLOGY

Mitochondria in motor nerve terminals: function in health and in mutant superoxide dismutase 1 mouse models of familial ALS

(2011) Ellen F. Barrett et al.   JOURNAL OF BIOENERGETICS AND BIOMEMBRANES

pUNISHER: a high-level expression cassette for use with recombinant viral vectors for rapid and long term in vivo neuronal expression in the CNS

(2011) Monica S. Montesinos et al.   JOURNAL OF NEUROPHYSIOLOGY

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

Deranged Calcium Signaling in Purkinje Cells and Pathogenesis in Spinocerebellar Ataxia 2 (SCA2) and Other Ataxias

(2010) Adebimpe Kasumu et al.   CEREBELLUM

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

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

(2010) Daniela Di Bella et al.   NATURE GENETICS

Mitochondrial dynamics-fusion, fission, movement, and mitophagy-in neurodegenerative diseases

(2009) H. Chen et al.   HUMAN MOLECULAR 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

The Mitochondrial Protease AFG3L2 Is Essential for Axonal Development

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