Loss of SLC25A46 causes neurodegeneration by affecting mitochondrial dynamics and energy production in mice

Rapid degradation of mutant SLC25A46 by the ubiquitin-proteasome system results in MFN1/2-mediated hyperfusion of mitochondria

(2017) Janos Steffen et al.   MOLECULAR BIOLOGY OF THE CELL

Novel pathogenicSLC25A46splice-site mutation causes an optic atrophy spectrum disorder

(2016) M. Nguyen et al.   CLINICAL GENETICS

SLC25A46is required for mitochondrial lipid homeostasis and cristae maintenance and is responsible for Leigh syndrome

(2016) Alexandre Janer et al.   EMBO Molecular Medicine

Metabolic regulation of mitochondrial dynamics

(2016) Prashant Mishra et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial fission protein Drp1 regulates mitochondrial transport and dendritic arborization in cerebellar Purkinje cells

(2016) Kansai Fukumitsu et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

SLC25A46 mutations underlie progressive myoclonic ataxia with optic atrophy and neuropathy

(2016) Gavin Charlesworth et al.   MOVEMENT DISORDERS

Hypoxia as a therapy for mitochondrial disease

(2016) I. H. Jain et al.   SCIENCE

The Spontaneous Ataxic Mouse Mutant Tippy is Characterized by a Novel Purkinje Cell Morphogenesis and Degeneration Phenotype

(2015) Evelyn K. Shih et al.   CEREBELLUM

Phenotypic and functional characterization of Bst+/- mouse retina

(2015) H. Riazifar et al.   Disease Models & Mechanisms

Mutations in SLC25A46, encoding a UGO1-like protein, cause an optic atrophy spectrum disorder

(2015) Alexander J Abrams et al.   NATURE GENETICS

Mutations of Human NARS2, Encoding the Mitochondrial Asparaginyl-tRNA Synthetase, Cause Nonsyndromic Deafness and Leigh Syndrome

(2015) Mariella Simon et al.   PLoS Genetics

A splice donor mutation inNAA10results in the dysregulation of the retinoic acid signalling pathway and causes Lenz microphthalmia syndrome

(2014) Taraneh Esmailpour et al.   JOURNAL OF MEDICAL GENETICS

Renin–angiotensin system regulates neurodegeneration in a mouse model of normal tension glaucoma

(2014) K Semba et al.   Cell Death & Disease

Presence of Foveal Bulge in Optical Coherence Tomographic Images in Eyes With Macular Edema Associated With Branch Retinal Vein Occlusion

(2013) Taiji Hasegawa et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Autophagy-mediated turnover of Dynamin-related Protein 1

(2013) Phillip R Purnell et al.   BMC NEUROSCIENCE

One-Step Generation of Mice Carrying Mutations in Multiple Genes by CRISPR/Cas-Mediated Genome Engineering

(2013) Haoyi Wang et al.   CELL

Dynamic Imaging of Genomic Loci in Living Human Cells by an Optimized CRISPR/Cas System

(2013) Baohui Chen et al.   CELL

Electron Microscopic Analysis of a Spherical Mitochondrial Structure

(2012) Wen-Xing Ding et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mitochondrial division ensures the survival of postmitotic neurons by suppressing oxidative damage

(2012) Yusuke Kageyama et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS)

(2012) M. Girard et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Altered fusion dynamics underlie unique morphological changes in mitochondria during hypoxia–reoxygenation stress

(2011) X Liu et al.   CELL DEATH AND DIFFERENTIATION

Application of Fluoro-Jade C in Acute and Chronic Neurodegeneration Models: Utilities and Staining Differences

(2010) Ayuka Ehara et al.   ACTA HISTOCHEMICA ET CYTOCHEMICA

A Lethalde NovoMutation in the Middle Domain of the Dynamin-related GTPase Drp1 Impairs Higher Order Assembly and Mitochondrial Division

(2010) Chuang-Rung Chang et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Mechanisms of mitophagy

(2010) Richard J. Youle et al.   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Abnormal mitochondrial dynamics and neurodegenerative diseases

(2009) Bo Su et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR BASIS OF DISEASE

Role of mitofusin 2 mutations in the physiopathology of Charcot–Marie–Tooth disease type 2A

(2009) Romain Cartoni et al.   EXPERIMENTAL NEUROLOGY

The dynamin-related GTPase Drp1 is required for embryonic and brain development in mice

(2009) Junko Wakabayashi et al.   JOURNAL OF CELL BIOLOGY

Mitochondrial fission factor Drp1 is essential for embryonic development and synapse formation in mice

(2009) Naotada Ishihara et al.   NATURE CELL BIOLOGY

Mitochondrial dynamics as a bridge between mitochondrial dysfunction and insulin resistance

(2009) Antonio Zorzano et al.   ARCHIVES OF PHYSIOLOGY AND BIOCHEMISTRY

Mitochondrial fragmentation in neurodegeneration

(2008) Andrew B. Knott et al.   NATURE REVIEWS NEUROSCIENCE