Regulation of Mitochondrial Iron Accumulation by Yfh1p, a Putative Homolog of Frataxin

Michael Babcock, Deepika de Silva, Robert Oaks, +5

Science

Iron MetabolismGeneticsPutative HomologMolecular BiologyMolecular Genetics +17

Frataxin is Reduced in Friedreich Ataxia Patients and is Associated with Mitochondrial Membranes

Victoria Campuzano, Laura Montermini, Yves Lutz, +12

Human Molecular Genetics

MitophagyPathologyCell DeathFriedreich AtaxiaOxidative Stress +14

Using Whole-Exome Sequencing to Identify Inherited Causes of Autism

Timothy W. Yu, Maria H. Chahrour, Michael E. Coulter, +46

Neuron

Whole-exome SequencingGeneticsSyndromic AutismAutism

The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis syndrome patients

Zhaoyang Zhao, Chang-Chi Lee, Sarn Jiralerspong, +6

Human Molecular Genetics

Somatic mosaicism for Friedreich's ataxia GAA triplet repeat expansions in the central nervous system

Laura Montermini, Stephen J. Kish, Sarn Jiralerspong, +2

Neurology

Neurological DisorderGeneticsDisease Gene IdentificationGaa RepeatsSocial Sciences +17

Functional characterization of novel mutations in GNPAT and AGPS, causing rhizomelic chondrodysplasia punctata (RCDP) types 2 and 3

Brandon Itzkovitz, Sarn Jiralerspong, Graeme Nimmo, +6

Human Mutation

Manganese superoxide dismutase induction by iron is impaired in Friedreich ataxia cells

Sarn Jiralerspong, Bing Ge, Thomas J. Hudson, +1

FEBS Letters

Frataxin Shows Developmentally Regulated Tissue-Specific Expression in the Mouse Embryo

Sarn Jiralerspong, Yan‐Ling Liu, Laura Montermini, +2

Neurobiology of Disease

Developmental BiologyTissue DevelopmentMorphogenesisFrataxin Shows DevelopmentallyOrgan Development +6

Knock‐out of the <i>cyaY</i> gene in <i>Escherichia coli</i> does not affect cellular iron content and sensitivity to oxidants

Dong Sheng Li, Keiichi Ohshima, Sarn Jiralerspong, +2

FEBS Letters

Recovery of PEX1-Gly843Asp peroxisome dysfunction by small-molecule compounds

Rui Zhang, Li Chen, Sarn Jiralerspong, +3

Proceedings of the National Academy of Sciences

Translational MedicineFibrosisBiochemistryZellweger Spectrum DisorderMedicine +11