Research Topics
| WILLIAM JAMES CRAIGENSummaryAffiliation: Baylor College of Medicine Country: USA Publications
Research Grants
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Detail Information
Publications
Mitochondrial DNA mutations: an overview of clinical and molecular aspectsWilliam J Craigen
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA
Methods Mol Biol 837:3-15. 2012..This chapter reviews the classification of mtDNA mutations and the clinical features that determine the diagnosis of a primary mtDNA disorder...- Genetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functionsWilliam J Craigen
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
J Bioenerg Biomembr 40:207-12. 2008..Striking similarities to mouse VDAC mutants can be found that emphasize the conservation of function over a long evolutionary time frame... - Current molecular diagnostic algorithm for mitochondrial disordersLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 100:111-7. 2010..The ever-expanding list of known disease-causing genes will undoubtedly improve diagnostic accuracy and genetic counseling... 
Neurologic dysfunction and male infertility in Drosophila porin mutants: a new model for mitochondrial dysfunction and diseaseBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Biol Chem 285:11143-53. 2010....- MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutationsAyman W El-Hattab
Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor Plaza, Houston, TX 77030, USA
Mol Genet Metab 99:300-8. 2010..Localizing the mutations within the predicted MPV17 protein structure reveals clustering of mutations in the region of the putative protein kinase C phosphorylation site... 
Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expressionBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Mol Genet Metab 85:308-17. 2005....- Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancyLee Jun C Wong
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Hepatology 46:1218-27. 2007..CONCLUSION: We therefore propose that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile hepatic failure... - Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial diseaseFernando Scaglia
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Pediatrics 114:925-31. 2004..The aim of this study was to elucidate the frequency of major clinical manifestations in children with mitochondrial disease and establish their clinical course, prognosis, and rates of survival depending on their clinical features... - Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial diseaseBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Methods 26:364-70. 2002..This review presents various behavioral and exercise physiology protocols that can be used for the evaluation of potential mouse models of human mitochondrial disorders... - The role of mitochondrial porins and the permeability transition pore in learning and synaptic plasticityEdwin J Weeber
Division of Neuroscience, Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
J Biol Chem 277:18891-7. 2002..These results demonstrate a dynamic functional role for mitochondrial porins and the permeability transition pore in learning and synaptic plasticity... - Genetic approaches to analyzing mitochondrial outer membrane permeabilityBrett H Graham
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA
Curr Top Dev Biol 59:87-118. 2004 - Mitochondrial regulation of synaptic plasticity in the hippocampusMichael Levy
Division of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA
J Biol Chem 278:17727-34. 2003..The data suggest a role for the mitochondrial permeability transition pore and voltage-dependent anion channels in mitochondrial synaptic calcium buffering and in hippocampal synaptic plasticity... - Increased MECP2 gene copy number as the result of genomic duplication in neurodevelopmentally delayed malesDaniela del Gaudio
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
Genet Med 8:784-92. 2006..Recent clinical testing for MECP2 gene rearrangements revealed that entire MECP2 gene duplication occurs in some males manifesting a progressive neurodevelopmental syndrome... - VDAC1 serves as a mitochondrial binding site for hexokinase in oxidative musclesKeltoum Anflous-Pharayra
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Biochim Biophys Acta 1767:136-42. 2007..Therefore, we demonstrated a link between VDAC1 mediated mitochondria-bound hexokinase activity and the capacity for glucose clearance... - SNP genotyping to screen for a common deletion in CHARGE syndromeSeema R Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA
BMC Med Genet 6:8. 2005..Recently, microdeletion at 8q12 locus was reported in two patients with CHARGE, although point mutation in CHD7 on chromosome 8 was the underlying etiology in most of the affected patients... - A mouse model of argininosuccinic aciduria: biochemical characterizationV Reid Sutton
Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA
Mol Genet Metab 78:11-6. 2003..Plasma nitrites, derived from NO, were not reduced in AL deficient mice and there was no significant difference is the level of cyclic GMP, the second messenger induced by NO... - Spectrum of CHD7 mutations in 110 individuals with CHARGE syndrome and genotype-phenotype correlationSeema R Lalani
Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA
Am J Hum Genet 78:303-14. 2006..We conclude that cardiovascular malformations, coloboma, and facial asymmetry are common findings in CHARGE syndrome caused by CHD7 mutation...
Research Grants
- The Role of Mitochondrial VDACs in ApoptosisWilliam Craigen; Fiscal Year: 2009..Using genetic and biochemical techniques, in combination with genetically engineered cultured cells and mice, the aim is to establish that these channels are potential targets for therapeutic interventions. ..
- The Role of Mitochondrial VDACs in ApoptosisWilliam Craigen; Fiscal Year: 2004..These studies may validate VDACs as targets for inhibiting or enhancing apoptosis. ..
- GENETIC APPROACHES TO MITOCHONDRIAL VDAC FUNCTIONWilliam Craigen; Fiscal Year: 2001....
- The Role of Mitochondrial VDACs in ApoptosisWILLIAM JAMES CRAIGEN; Fiscal Year: 2010..Using genetic and biochemical techniques, in combination with genetically engineered cultured cells and mice, the aim is to establish that these channels are potential targets for therapeutic interventions. ..