Navajo neurohepatopathy: a mitochondrial DNA depletion syndrome?T H Vu
Department of Neurology and H Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Diseases, Columbia University, New York, NY, USA
Hepatology 34:116-20. 2001
..Using histochemical, biochemical, and molecular techniques, we found evidence of mtDNA depletion, and we propose that the primary defect in NNH is in the nuclear regulation of mtDNA copy number...
Mitochondrial involvement in Alzheimer's diseaseE Bonilla
Departments of Neurology, College of Physicians and Surgeons, Columbia University, New York, NY 10032, USA
Biochim Biophys Acta 1410:171-82. 1999
..On the other hand, the role(s) of somatic cell or maternally inherited mtDNA mutations in the pathogenesis of mitochondrial dysfunction in AD are still controversial...
Defects of intergenomic communication: autosomal disorders that cause multiple deletions and depletion of mitochondrial DNAM Hirano
Department of Neurology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
Semin Cell Dev Biol 12:417-27. 2001
..Uncovering the molecular bases of intergenomic communication defects will enhance our understanding of the mechanisms responsible for maintaining mtDNA integrity...
Myopathy with tubulin-reactive crystalline inclusionsT H Vu
H. Houston Merritt Clinical Research Center for Muscular Dystrophy and Related Disorders and Department of Neurology, Columbia University, New York, NY 10032, USA
Neurology 57:149-52. 2001
..Immunochemical studies showed strong reactivity of the inclusions to tubulin antibodies, suggesting that these unique crystalline inclusions may be a consequence of altered synthesis, processing, or degradation of tubulin...
Neuropathological features of mitochondrial disordersK Tanji
Department of Neurology, Columbia University College of Physicians and Surgeons, 630 West 168th Street, New York, NY 10032, USA
Semin Cell Dev Biol 12:429-39. 2001
..As the role of the blood-cerebrospinal fluid (CSF) and brain-blood barriers in mitochondrial encephalopathies is better understood, manipulation of their functions offers promises for therapeutic interventions...