Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P2 phosphatase FIG4

Charcot-marie-tooth disease subtypes and genetic testing strategies

(2011) Anita S.D. Saporta et al.   ANNALS OF NEUROLOGY

TTC21B contributes both causal and modifying alleles across the ciliopathy spectrum

(2011) Erica E Davis et al.   NATURE GENETICS

Pathogenic Mechanism of the FIG4 Mutation Responsible for Charcot-Marie-Tooth Disease CMT4J

(2011) Guy M. Lenk et al.   PLoS Genetics

Crystal structure of the yeast Sac1: implications for its phosphoinositide phosphatase function

(2010) Andrew Manford et al.   EMBO JOURNAL

ArPIKfyve Regulates Sac3 Protein Abundance and Turnover

(2010) Ognian C. Ikonomov et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A map of human genome variation from population-scale sequencing

(2010) Richard M. Durbin et al.   NATURE

Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing

(2010) J. C. Roach et al.   SCIENCE

Deleterious Variants of FIG4, a Phosphoinositide Phosphatase, in Patients with ALS

(2009) Clement Y. Chow et al.   AMERICAN JOURNAL OF HUMAN GENETICS

The ClinSeq Project: Piloting large-scale genome sequencing for research in genomic medicine

(2009) L. G. Biesecker et al.   GENOME RESEARCH

Defective autophagy in neurons and astrocytes from mice deficient in PI(3,5)P2

(2009) Cole J. Ferguson et al.   HUMAN MOLECULAR GENETICS

Targeted capture and massively parallel sequencing of 12 human exomes

(2009) Sarah B. Ng et al.   NATURE

Charcot-Marie-Tooth Disease: A Clinico-genetic Confrontation

(2008) N. Barisic et al.   ANNALS OF HUMAN GENETICS

Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration

(2008) Xuebao Zhang et al.   BRAIN

VAC14 nucleates a protein complex essential for the acute interconversion of PI3P and PI(3,5)P2 in yeast and mouse

(2008) Natsuko Jin et al.   EMBO JOURNAL