• Publications
  • Influence
A novel protein tyrosine phosphatase gene is mutated in progressive myoclonus epilepsy of the Lafora type (EPM2).
Progressive myoclonus epilepsy of the Lafora type or Lafora disease (EPM2; McKusick no. 254780) is an autosomal recessive disorder characterized by epilepsy, myoclonus, progressive neurologicalExpand
  • 191
  • 17
OPA1 mutations induce mitochondrial DNA instability and optic atrophy 'plus' phenotypes.
Mutations in OPA1, a dynamin-related GTPase involved in mitochondrial fusion, cristae organization and control of apoptosis, have been linked to non-syndromic optic neuropathy transmitted as anExpand
  • 420
  • 12
  • PDF
Differences in reactive oxygen species production explain the phenotypes associated with common mouse mitochondrial DNA variants
Common mitochondrial DNA (mtDNA) haplotypes in humans and mice have been associated with various phenotypes, including learning performance and disease penetrance. Notably, no influence of mtDNAExpand
  • 283
  • 11
Genomic cloning and characterization of the human homeobox gene SIX6 reveals a cluster of SIX genes in chromosome 14 and associates SIX6 hemizygosity with bilateral anophthalmia and pituitary
The Drosophila gene sine oculis (so), a nuclear homeoprotein that is required for eye development, has several homologues in vertebrates (the SIX gene family). Among them, SIX3 is considered to beExpand
  • 165
  • 8
Clustering of missense mutations in the C-terminal region of factor H in atypical hemolytic uremic syndrome.
Hemolytic-uremic syndrome (HUS) is a microvasculature disorder leading to microangiopathic hemolytic anemia, thrombocytopenia, and acute renal failure. Most cases of HUS are associated with epidemicsExpand
  • 315
  • 7
The molecular basis of 3-methylcrotonylglycinuria, a disorder of leucine catabolism.
3-Methylcrotonylglycinuria is an inborn error of leucine catabolism and has a recessive pattern of inheritance that results from the deficiency of 3-methylcrotonyl-CoA carboxylase (MCC). TheExpand
  • 63
  • 5
Six9 (Optx2), a new member of the Six gene family of transcription factors, is expressed at early stages of vertebrate ocular and pituitary development
The Drosophila gene sine oculis (so) is a nuclear homeoprotein, which is required for eye development. Several homologues of so have been found in vertebrates. We report here a detailed expressionExpand
  • 74
  • 5
Genomic cloning, structure, expression pattern, and chromosomal location of the human SIX3 gene.
The Drosophila gene sine oculis (so) is a nuclear homeoprotein that is required for eye development. Homologous genes to so, denoted SIX genes, have been found in vertebrates. Among the SIX genes,Expand
  • 37
  • 5
Evolution Meets Disease: Penetrance and Functional Epistasis of Mitochondrial tRNA Mutations
About half of the mitochondrial DNA (mtDNA) mutations causing diseases in humans occur in tRNA genes. Particularly intriguing are those pathogenic tRNA mutations than can reach homoplasmy and yetExpand
  • 52
  • 4
  • PDF
Enhanced tumorigenicity by mitochondrial DNA mild mutations
To understand how mitochondria are involved in malignant transformation we have generated a collection of transmitochondrial cybrid cell lines on the same nuclear background (143B) but with mutantExpand
  • 32
  • 3
  • PDF