Type III 3-Methylglutaconic Aciduria (Optic Atrophy Plus Syndrome, or Costeff Optic Atrophy Syndrome): Identification of the OPA3 Gene and Its Founder Mutation in Iraqi Jews

RNA splice junctions of different classes of eukaryotes: sequence statistics and functional implications in gene expression

Marvin B. Shapiro, Periannan Senapathy · Nucleic Acids Research · 1987 · 2.3K citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Nuclear gene OPA1, encoding a mitochondrial dynamin-related protein, is mutated in dominant optic atrophy

Cécile Delettre, Guy Lenaers, Jean‐Michel Griffoin et al. · Nature Genetics · 2000 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +13

A conserved tripeptide sorts proteins to peroxisomes.

Stephen J. Gould, G A Keller, Nancy Hosken et al. · The Journal of Cell Biology · 1989 · 1.1K citations · Full text

Life Sciences, Biochemistry, Molecular Biology +17

A novel X-linked gene, G4.5. is responsible for Barth syndrome

Silvia Bione, Patrizia D’Adamo, Elena Maestrini et al. · Nature Genetics · 1996 · 752 citations

Life Sciences, Genetics, Molecular Genetics +6

Defective Remodeling of Cardiolipin and Phosphatidylglycerol in Barth Syndrome

P. Vreken, Fredoen Valianpour, Leo Nijtmans et al. · Biochemical and Biophysical Research Communications · 2000 · 372 citations

Life Sciences, Biochemistry, Pathology +13