Mitochondrial Genetics and Disease

 -Synuclein Is Localized to Mitochondria-Associated ER Membranes

(2014) C. Guardia-Laguarta et al.   JOURNAL OF NEUROSCIENCE

MAM (mitochondria-associated membranes) in mammalian cells: Lipids and beyond

(2013) Jean E. Vance   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Mitochondrial Colocalization with Ca2+ Release Sites is Crucial to Cardiac Metabolism

(2013) Asuka Hatano et al.   BIOPHYSICAL JOURNAL

Autophagosomes form at ER–mitochondria contact sites

(2013) Maho Hamasaki et al.   NATURE

The clinical maze of mitochondrial neurology

(2013) Salvatore DiMauro et al.   Nature Reviews Neurology

Loss of Spastin Function Results in Disease-Specific Axonal Defects in Human Pluripotent Stem Cell-Based Models of Hereditary Spastic Paraplegia

(2013) Kyle R. Denton et al.   STEM CELLS

The dynamin GTPase OPA1: More than mitochondria?

(2012) Pascale Belenguer et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR CELL RESEARCH

Upregulated function of mitochondria-associated ER membranes in Alzheimer disease

(2012) Estela Area-Gomez et al.   EMBO JOURNAL

Mitochondrial quality control: a matter of life and death for neurons

(2012) Elena I Rugarli et al.   EMBO JOURNAL

Genomic analysis of mitochondrial diseases in a consanguineous population reveals novel candidate disease genes

(2012) Hanan E Shamseldin et al.   JOURNAL OF MEDICAL GENETICS

Mitochondria-associated ER membranes in Alzheimer disease

(2012) Eric A. Schon et al.   MOLECULAR AND CELLULAR NEUROSCIENCE

Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness

(2012) Saskia B Wortmann et al.   NATURE GENETICS

Human mitochondrial DNA: roles of inherited and somatic mutations

(2012) Eric A. Schon et al.   NATURE REVIEWS GENETICS

Molecular Diagnosis of Infantile Mitochondrial Disease with Targeted Next-Generation Sequencing

(2012) S. E. Calvo et al.   Science Translational Medicine

A mutation in sigma-1 receptor causes juvenile amyotrophic lateral sclerosis

(2011) Amr Al-Saif et al.   ANNALS OF NEUROLOGY

Normal role of the low-molecular-weight neurofilament protein in mitochondrial dynamics and disruption in Charcot-Marie-Tooth disease

(2011) Benoit J. Gentil et al.   FASEB JOURNAL

VAPB interacts with the mitochondrial protein PTPIP51 to regulate calcium homeostasis

(2011) Kurt J. De Vos et al.   HUMAN MOLECULAR GENETICS

A frameshift mutation of ERLIN2 in recessive intellectual disability, motor dysfunction and multiple joint contractures

(2011) Yeşerin Yıldırım et al.   HUMAN MOLECULAR GENETICS

The implications of mitochondrial DNA copy number regulation during embryogenesis

(2011) Phillippa J. Carling et al.   MITOCHONDRION

Mitochondria: The Next (Neurode)Generation

(2011) Eric A. Schon et al.   NEURON

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

(2010) Daniela Di Bella et al.   NATURE GENETICS

Mechanisms of mitophagy

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

Exome Sequencing Reveals VCP Mutations as a Cause of Familial ALS

(2010) Janel O. Johnson et al.   NEURON

Evolutionary origins of metabolic compartmentalization in eukaryotes

(2010) W. Martin   PHILOSOPHICAL TRANSACTIONS OF THE ROYAL SOCIETY B-BIOLOGICAL SCIENCES

Mitochondrial iron trafficking and the integration of iron metabolism between the mitochondrion and cytosol

(2010) D. R. Richardson et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Presenilins Are Enriched in Endoplasmic Reticulum Membranes Associated with Mitochondria

(2009) Estela Area-Gomez et al.   AMERICAN JOURNAL OF PATHOLOGY

Mitochondrial vesicles: an ancient process providing new links to peroxisomes

(2009) Miguel A Andrade-Navarro et al.   CURRENT OPINION IN CELL BIOLOGY

Mitochondrial and Axonal Abnormalities Precede Disruption of the Neurofilament Network in a Model of Charcot-Marie-Tooth Disease Type 2E and Are Prevented by Heat Shock Proteins in a Mutant-Specific Fashion

(2009) Miranda L. Tradewell et al.   JOURNAL OF NEUROPATHOLOGY AND EXPERIMENTAL NEUROLOGY

GDAP1 mutations differ in their effects on mitochondrial dynamics and apoptosis depending on the mode of inheritance

(2009) Axel Niemann et al.   NEUROBIOLOGY OF DISEASE

Mitofusin 2 tethers endoplasmic reticulum to mitochondria

(2008) Olga Martins de Brito et al.   NATURE