A Novel Frameshift Mutation in the AFG3L2 Gene in a Patient with Spinocerebellar Ataxia

When a ribosome encounters a premature termination codon

(2013) Jungwook Hwang et al.   BMB Reports

Mutations in potassium channelkcnd3cause spinocerebellar ataxia type 19

(2012) Anna Duarri et al.   ANNALS OF NEUROLOGY

Mutations inKCND3cause spinocerebellar ataxia type 22

(2012) Yi-Chung Lee et al.   ANNALS OF NEUROLOGY

Genotype–phenotype correlations in spastic paraplegia type 7: a study in a large Dutch cohort

(2012) Koen L. I. van Gassen et al.   BRAIN

Spastic paraplegia gene 7 in patients with spasticity and/or optic neuropathy

(2012) Stephan Klebe et al.   BRAIN

The Ever Expanding Spinocerebellar Ataxias. Editorial

(2012) Antoni Matilla-Dueñas   CEREBELLUM

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

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

AFG3L2 supports mitochondrial protein synthesis and Purkinje cell survival

(2012) Eva R. Almajan et al.   JOURNAL OF CLINICAL INVESTIGATION

NMD: a multifaceted response to premature translational termination

(2012) Stephanie Kervestin et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

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

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

(2010) Daniela Di Bella et al.   NATURE GENETICS

Quantitative sequence analysis ofFBN1premature termination codons provides evidence for incomplete NMD in leukocytes

(2009) István Magyar et al.   HUMAN MUTATION

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

Spinocerebellar ataxia type 28: A novel autosomal dominant cerebellar ataxia characterized by slow progression and ophthalmoparesis

(2008) Caterina Mariotti et al.   CEREBELLUM

Quality control of mitochondria: protection against neurodegeneration and ageing

(2008) Takashi Tatsuta et al.   EMBO JOURNAL

Monosomy 18p

(2008) Catherine Turleau   Orphanet Journal of Rare Diseases