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

Structural Basis of Defects in the Sacsin HEPN Domain Responsible for Autosomal Recessive Spastic Ataxia of Charlevoix-Saguenay (ARSACS)

(2011) Guennadi Kozlov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

The Neurodegenerative-Disease-Related Protein Sacsin Is a Molecular Chaperone

(2011) John F. Anderson et al.   JOURNAL OF MOLECULAR BIOLOGY

Is the ataxia of Charlevoix–Saguenay a developmental disease?

(2011) José Gazulla et al.   MEDICAL HYPOTHESES

Mitochondria: The Next (Neurode)Generation

(2011) Eric A. Schon et al.   NEURON

Autosomal recessive spastic ataxia of Charlevoix–Saguenay: An overview

(2011) Yosr Bouhlal et al.   PARKINSONISM & RELATED DISORDERS

Angelman syndrome: insights into genomic imprinting and neurodevelopmental phenotypes

(2011) Angela M. Mabb et al.   TRENDS IN NEUROSCIENCES

Physiological functions of mitochondrial fusion

(2010) Hsiuchen Chen et al.   Annals of the New York Academy of Sciences

Dynamin-related protein 1 and mitochondrial fragmentation in neurodegenerative diseases

(2010) P. Hemachandra Reddy et al.   BRAIN RESEARCH REVIEWS

The Angelman Syndrome Protein Ube3A Regulates Synapse Development by Ubiquitinating Arc

(2010) Paul L. Greer et al.   CELL

Mitochondrial dynamics in cell death and neurodegeneration

(2010) Dong-Hyung Cho et al.   CELLULAR AND MOLECULAR LIFE SCIENCES

Mitochondrial trafficking and the provision of energy and calcium buffering at excitatory synapses

(2010) Andrew F. MacAskill et al.   EUROPEAN JOURNAL OF NEUROSCIENCE

Proteasome and p97 mediate mitophagy and degradation of mitofusins induced by Parkin

(2010) Atsushi Tanaka et al.   JOURNAL OF CELL BIOLOGY

The Sacsin Repeating Region (SRR): A Novel Hsp90-Related Supra-Domain Associated with Neurodegeneration

(2010) John F. Anderson et al.   JOURNAL OF MOLECULAR BIOLOGY

The Connecdenn DENN Domain: A GEF for Rab35 Mediating Cargo-Specific Exit from Early Endosomes

(2010) Patrick D. Allaire et al.   MOLECULAR CELL

PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1

(2010) Sven Geisler et al.   NATURE CELL BIOLOGY

Amyloid-β–induced neuronal dysfunction in Alzheimer's disease: from synapses toward neural networks

(2010) Jorge J Palop et al.   NATURE NEUROSCIENCE

Mitochondrial fusion and fission in cell life and death

(2010) Benedikt Westermann   NATURE REVIEWS MOLECULAR CELL BIOLOGY

Mutations in SACS cause atypical and late-onset forms of ARSACS

(2010) J. Baets et al.   NEUROLOGY

Early synaptic pathophysiology in neurodegeneration: insights from Huntington's disease

(2010) Austen J. Milnerwood et al.   TRENDS IN NEUROSCIENCES

Abnormal mitochondrial dynamics and neurodegenerative diseases

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

The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1

(2009) David A. Parfitt et al.   HUMAN MOLECULAR GENETICS

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

(2009) H. Chen et al.   HUMAN MOLECULAR GENETICS

The Clavesin Family, Neuron-specific Lipid- and Clathrin-binding Sec14 Proteins Regulating Lysosomal Morphology

(2009) Yohei Katoh et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Impaired Balance of Mitochondrial Fission and Fusion in Alzheimer's Disease

(2009) X. Wang et al.   JOURNAL OF NEUROSCIENCE

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

(2009) Naotada Ishihara et al.   NATURE CELL BIOLOGY

A hyperfused mitochondrial state achieved at G1-S regulates cyclin E buildup and entry into S phase

(2009) K. Mitra et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Control of mitochondrial transport and localization in neurons

(2009) Andrew F. MacAskill et al.   TRENDS IN CELL BIOLOGY

An RNAi Screen for Mitochondrial Proteins Required to Maintain the Morphology of the Organelle in Caenorhabditis elegans

(2008) Ryohei Ichishita et al.   JOURNAL OF BIOCHEMISTRY

ARSACS in the Dutch population: a frequent cause of early-onset cerebellar ataxia

(2008) Sascha Vermeer et al.   NEUROGENETICS