• Publications
  • Influence
Mitochondrial ribosomal RNA mutation associated with both antibiotic–induced and non–syndromic deafness
Maternally transmitted non–syndromic deafness was described recently both in pedigrees with susceptibility to aminoglycoside ototoxicity and in a large Arab–Israeli pedigree. Because of the knownExpand
  • 1,029
  • 42
A simple method for site-directed mutagenesis using the polymerase chain reaction.
We have developed a general and simple method for directing specific sequence changes in a plasmid using primed amplification by the polymerase chain reaction (PCR). The method is based on theExpand
  • 535
  • 29
Bcl-2 potentiates the maximal calcium uptake capacity of neural cell mitochondria.
Expression of the human protooncogene bcl-2 protects neural cells from death induced by many forms of stress, including conditions that greatly elevate intracellular Ca2+. Considering that Bcl-2 isExpand
  • 384
  • 14
Differentiation-specific effects of LHON mutations introduced into neuronal NT2 cells.
Inheritance of one of three primary mutations at positions 11778, 3460 or 14484 of the mitochondrial genome in subunits of Complex I causes Leber's Hereditary Optic Neuropathy (LHON), a specificExpand
  • 174
  • 12
  • PDF
Mitochondrial frataxin interacts with ISD11 of the NFS1/ISCU complex and multiple mitochondrial chaperones.
The neurodegenerative disorder Friedreich's ataxia (FRDA) is caused by mutations in frataxin, a mitochondrial protein whose function remains controversial. Using co-immunoprecipitation and massExpand
  • 143
  • 11
  • PDF
Mosaicism for a specific somatic mitochondrial DNA mutation in adult human brain
The levels of a specific mitochondrial DNA deletion (mtDNA4977) measured in 12 brain regions of 6 normal adults 39 to 82 years old exhibited striking variation among anatomical locations. ComparisonsExpand
  • 389
  • 10
Detection of a specific mitochondrial DNA deletion in tissues of older humans.
Using PCR, we found that normal heart muscle and brain from adult human individuals contain low levels of a specific mitochondrial DNA deletion, previously found only in patients affected withExpand
  • 721
  • 9
The Friedreich's ataxia mutation confers cellular sensitivity to oxidant stress which is rescued by chelators of iron and calcium and inhibitors of apoptosis.
Expansions of an intronic GAA repeat reduce the expression of frataxin and cause Friedreich's ataxia (FRDA), an autosomal recessive neurodegenerative disease. Frataxin is a mitochondrial protein, andExpand
  • 363
  • 9
Pyrroloquinoline Quinone Stimulates Mitochondrial Biogenesis through cAMP Response Element-binding Protein Phosphorylation and Increased PGC-1α Expression*
Bioactive compounds reported to stimulate mitochondrial biogenesis are linked to many health benefits such increased longevity, improved energy utilization, and protection from reactive oxygenExpand
  • 147
  • 9
  • PDF
A pattern of accumulation of a somatic deletion of mitochondrial DNA in aging human tissues.
An assay that selectively amplifies a specific deletion of the mitochondrial genome has been used to study the extent of the deletion's accumulation in a variety of human tissues. The deletion occursExpand
  • 599
  • 8
  • PDF