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

Exome Sequencing Identifies WDR35 Variants Involved in Sensenbrenner Syndrome

(2010) Christian Gilissen et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Nonesterified cholesterol content of lysosomes modulates susceptibility to oxidant-induced permeabilization

(2010) John J. Reiners et al.   FREE RADICAL BIOLOGY AND MEDICINE

The 3-methylglutaconic acidurias: what’s new?

(2010) Saskia B. Wortmann et al.   JOURNAL OF INHERITED METABOLIC DISEASE

A method and server for predicting damaging missense mutations

(2010) Ivan A Adzhubei et al.   NATURE METHODS

Cardiolipin and monolysocardiolipin analysis in fibroblasts, lymphocytes, and tissues using high-performance liquid chromatography–mass spectrometry as a diagnostic test for Barth syndrome

(2009) Riekelt H. Houtkooper et al.   ANALYTICAL BIOCHEMISTRY

Cardiolipin acts as a mitochondrial signalling platform to launch apoptosis

(2009) Zachary T. Schug et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

The role of cardiolipin in the structural organization of mitochondrial membranes

(2009) Michael Schlame et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

The enigmatic role of tafazzin in cardiolipin metabolism

(2009) Riekelt H. Houtkooper et al.   BIOCHIMICA ET BIOPHYSICA ACTA-BIOMEMBRANES

Biochemical and genetic analysis of 3-methylglutaconic aciduria type IV: a diagnostic strategy

(2008) Saskia B. Wortmann et al.   BRAIN

Lysobisphosphatidic Acid Controls Endosomal Cholesterol Levels

(2008) Julien Chevallier et al.   JOURNAL OF BIOLOGICAL CHEMISTRY