ALS/FTD mutant CHCHD10 mice reveal a tissue-specific toxic gain-of-function and mitochondrial stress response

The mTOR-S6 kinase pathway promotes stress granule assembly

(2018) Aristeidis P. Sfakianos et al.   CELL DEATH AND DIFFERENTIATION

UPRmt regulation and output: a stress response mediated by mitochondrial-nuclear communication

(2018) Andrew Melber et al.   CELL RESEARCH

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

(2018) Carina Lehmer et al.   EMBO Molecular Medicine

CHCHD10 mutations p.R15L and p.G66V cause motoneuron disease by haploinsufficiency

(2018) Sarah J Brockmann et al.   HUMAN MOLECULAR GENETICS

OUP accepted manuscript

(2018)   HUMAN MOLECULAR GENETICS

The cellular stress proteins CHCHD10 and MNRR1 (CHCHD2): Partners in mitochondrial and nuclear function and dysfunction

(2018) Neeraja Purandare et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Linking hnRNP Function to ALS and FTD Pathology

(2018) Maria D. Purice et al.   Frontiers in Neuroscience

Parkin is a disease modifier in the mutant SOD1 mouse model of ALS

(2018) Gloria M Palomo et al.   EMBO Molecular Medicine

Dynamic neuromuscular remodeling precedes motor-unit loss in a mouse model of ALS

(2018) Éric Martineau et al.   eLife

Loss of CHCHD10–CHCHD2 complexes required for respiration underlies the pathogenicity of a CHCHD10 mutation in ALS

(2017) Isabella R Straub et al.   HUMAN MOLECULAR GENETICS

In vitro and in vivo studies of the ALS-FTLD protein CHCHD10 reveal novel mitochondrial topology and protein interactions

(2017) S R Burstein et al.   HUMAN MOLECULAR GENETICS

Low-dose rapamycin extends lifespan in a mouse model of mtDNA depletion syndrome

(2017) Stephanie E Siegmund et al.   HUMAN MOLECULAR GENETICS

Proteinopathies and OXPHOS dysfunction in neurodegenerative diseases

(2017) Hibiki Kawamata et al.   JOURNAL OF CELL BIOLOGY

Multi-omics analysis identifies ATF4 as a key regulator of the mitochondrial stress response in mammals

(2017) Pedro M. Quirós et al.   JOURNAL OF CELL BIOLOGY

Investigating the role of ALS genes CHCHD10 and TUBA4A in Belgian FTD-ALS spectrum patients

(2017) Federica Perrone et al.   NEUROBIOLOGY OF AGING

Mitochondrial disease and lipid storage myopathy due to mutation in CHCHD10 or DNM1L and disordered mitochondrial dynamics

(2017) C. Fratter et al.   NEUROMUSCULAR DISORDERS

Loss of function CHCHD10 mutations in cytoplasmic TDP-43 accumulation and synaptic integrity

(2017) Jung-A. A. Woo et al.   Nature Communications

CHCHD10 mutations promote loss of mitochondrial cristae junctions with impaired mitochondrial genome maintenance and inhibition of apoptosis

(2015) E. C. Genin et al.   EMBO Molecular Medicine

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Stress granules as crucibles of ALS pathogenesis

(2013) Yun R. Li et al.   JOURNAL OF CELL BIOLOGY

Object recognition test in mice

(2013) Marianne Leger et al.   Nature Protocols

Converging Mechanisms in ALS and FTD: Disrupted RNA and Protein Homeostasis

(2013) Shuo-Chien Ling et al.   NEURON

mTOR Inhibition Alleviates Mitochondrial Disease in a Mouse Model of Leigh Syndrome

(2013) S. C. Johnson et al.   SCIENCE

TopHat2: accurate alignment of transcriptomes in the presence of insertions, deletions and gene fusions

(2013) Daehwan Kim et al.   GENOME BIOLOGY

Differential analysis of gene regulation at transcript resolution with RNA-seq

(2012) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

FGF-21 as a biomarker for muscle-manifesting mitochondrial respiratory chain deficiencies: a diagnostic study

(2011) Anu Suomalainen et al.   LANCET NEUROLOGY

Transgenic mice expressing mutant forms VCP/p97 recapitulate the full spectrum of IBMPFD including degeneration in muscle, brain and bone

(2010) Sara K. Custer et al.   HUMAN MOLECULAR GENETICS

Genome-wide analysis of eukaryotic twin CX9C proteins

(2010) Gabriele Cavallaro   Molecular BioSystems

Transcript assembly and quantification by RNA-Seq reveals unannotated transcripts and isoform switching during cell differentiation

(2010) Cole Trapnell et al.   NATURE BIOTECHNOLOGY

Preparation of Highly Coupled Rat Heart Mitochondria

(2010) Irina Gostimskaya et al.   Jove-Journal of Visualized Experiments