William J Craigen

William J Craigen

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William J Craigen

William J Craigen

Publications by authors named "William J Craigen"

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Aberrant Function of the C-Terminal Tail of HIST1H1E Accelerates Cellular Senescence and Causes Premature Aging.

Am J Hum Genet 2019 Sep 22;105(3):493-508. Epub 2019 Aug 22.

Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Istituto di Ricovero e Cura a Carattere Scientifico (IRCCS), Rome, 00146 Italy. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2019.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6731364PMC
September 2019

Pathogenic Variants in Fucokinase Cause a Congenital Disorder of Glycosylation.

Am J Hum Genet 2018 12 29;103(6):1030-1037. Epub 2018 Nov 29.

Human Genetics Program, Sanford-Burnham-Prebys Medical Discovery Institute, La Jolla, CA 92037, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ajhg.2018.10.021DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6288200PMC
December 2018

Milder clinical and biochemical phenotypes associated with the c.482G>A (p.Arg161Gln) pathogenic variant in cobalamin C disease: Implications for management and screening.

Mol Genet Metab 2017 09 29;122(1-2):60-66. Epub 2017 Jun 29.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Department of Molecular and Human Genetics, Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.011DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5612879PMC
September 2017

Mitochondrial DNA maintenance defects.

Biochim Biophys Acta Mol Basis Dis 2017 06 16;1863(6):1539-1555. Epub 2017 Feb 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.bbadis.2017.02.017DOI Listing
June 2017

Expansion of the Phenotypic Spectrum of Propionic Acidemia with Isolated Elevated Propionylcarnitine.

JIMD Rep 2017 30;35:33-37. Epub 2016 Nov 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX, 77030, USA.

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http://dx.doi.org/10.1007/8904_2016_21DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5585109PMC
November 2016

Expanding the phenotypic spectrum of Succinyl-CoA ligase deficiency through functional validation of a new SUCLG1 variant.

Mol Genet Metab 2016 09 25;119(1-2):68-74. Epub 2016 Jul 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.07.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5031536PMC
September 2016

Detection and Quantification of Mosaic Mutations in Disease Genes by Next-Generation Sequencing.

J Mol Diagn 2016 05 2;18(3):446-453. Epub 2016 Mar 2.

Baylor Miraca Genetics Laboratories, Houston, Texas; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas. Electronic address:

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http://dx.doi.org/10.1016/j.jmoldx.2016.01.002DOI Listing
May 2016

Impaired nitric oxide production in children with MELAS syndrome and the effect of arginine and citrulline supplementation.

Mol Genet Metab 2016 Apr 27;117(4):407-12. Epub 2016 Jan 27.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2016.01.010DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4818739PMC
April 2016

Arrhythmia as a cardiac manifestation in MELAS syndrome.

Mol Genet Metab Rep 2015 Sep 3;4:9-10. Epub 2015 Jun 3.

The Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2015.05.002DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4750557PMC
September 2015

The GABA transaminase, ABAT, is essential for mitochondrial nucleoside metabolism.

Cell Metab 2015 Mar;21(3):417-27

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.cmet.2015.02.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4757431PMC
March 2015

Glucose metabolism derangements in adults with the MELAS m.3243A>G mutation.

Mitochondrion 2014 Sep 30;18:63-9. Epub 2014 Jul 30.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA; Texas Children's Hospital, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.mito.2014.07.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4252755PMC
September 2014

Reduced VDAC1 protects against Alzheimer's disease, mitochondria, and synaptic deficiencies.

J Alzheimers Dis 2013 ;37(4):679-90

Neurogenetics Laboratory, Neuroscience Division, Oregon National Primate Research Center, Oregon Health and Science University, Beaverton, OR, USA.

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http://dx.doi.org/10.3233/JAD-130761DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3925364PMC
July 2014

Novel cardiovascular findings in association with a POMT2 mutation: three siblings with α-dystroglycanopathy.

Eur J Hum Genet 2014 Apr 4;22(4):486-91. Epub 2013 Sep 4.

Heart Institute, Cincinnati Children's Hospital Medical Center, Cincinnati, OH, USA.

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http://dx.doi.org/10.1038/ejhg.2013.165DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3953896PMC
April 2014

Mitochondria: role of citrulline and arginine supplementation in MELAS syndrome.

Int J Biochem Cell Biol 2014 Mar 8;48:85-91. Epub 2014 Jan 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.biocel.2013.12.009DOI Listing
March 2014

Screen for abnormal mitochondrial phenotypes in mouse embryonic stem cells identifies a model for succinyl-CoA ligase deficiency and mtDNA depletion.

Dis Model Mech 2014 Feb 21;7(2):271-80. Epub 2013 Nov 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1242/dmm.013466DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3917248PMC
February 2014

The effect of citrulline and arginine supplementation on lactic acidemia in MELAS syndrome.

Meta Gene 2013 Dec 15;1:8-14. Epub 2013 Oct 15.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.mgene.2013.09.001DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4205025PMC
December 2013

Exome sequencing of a patient with suspected mitochondrial disease reveals a likely multigenic etiology.

BMC Med Genet 2013 Aug 16;14:83. Epub 2013 Aug 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1186/1471-2350-14-83DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3751849PMC
August 2013

Biochemical, molecular, and clinical diagnoses of patients with cerebral creatine deficiency syndromes.

Mol Genet Metab 2013 Jul 17;109(3):260-8. Epub 2013 Apr 17.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2013.04.006DOI Listing
July 2013

Transition to next generation analysis of the whole mitochondrial genome: a summary of molecular defects.

Hum Mutat 2013 Jun 2;34(6):882-93. Epub 2013 Apr 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/humu.22307DOI Listing
June 2013

Clinical application of massively parallel sequencing in the molecular diagnosis of glycogen storage diseases of genetically heterogeneous origin.

Genet Med 2013 Feb 16;15(2):106-14. Epub 2012 Aug 16.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://www.nature.com/articles/gim2012104
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http://dx.doi.org/10.1038/gim.2012.104DOI Listing
February 2013

Citrulline and arginine utility in treating nitric oxide deficiency in mitochondrial disorders.

Mol Genet Metab 2012 Nov 6;107(3):247-52. Epub 2012 Jul 6.

Medical Genetics Section, Department of Pediatrics, The Children's Hospital at King Fahad Medical City and King Saud bin Abdulaziz University for Health Science, Riyadh, Kingdom of Saudi Arabia.

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http://dx.doi.org/10.1016/j.ymgme.2012.06.018DOI Listing
November 2012

SURF1-associated Leigh syndrome: a case series and novel mutations.

Hum Mutat 2012 Aug 30;33(8):1192-200. Epub 2012 Apr 30.

Department of Pediatrics, Chung Shan Medical University Hospital, Taichung, Taiwan.

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http://dx.doi.org/10.1002/humu.22095DOI Listing
August 2012

Voltage-dependant anion channels: novel insights into isoform function through genetic models.

Biochim Biophys Acta 2012 Jun 25;1818(6):1477-85. Epub 2011 Oct 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77025, USA.

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http://dx.doi.org/10.1016/j.bbamem.2011.10.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4273737PMC
June 2012

Diffuse reticuloendothelial system involvement in type IV glycogen storage disease with a novel GBE1 mutation: a case report and review.

Hum Pathol 2012 Jun 2;43(6):943-51. Epub 2012 Feb 2.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.humpath.2011.10.001DOI Listing
June 2012

An integrated approach for classifying mitochondrial DNA variants: one clinical diagnostic laboratory's experience.

Genet Med 2012 Jun 8;14(6):620-6. Epub 2012 Mar 8.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1038/gim.2012.4DOI Listing
June 2012

30-year follow-up of a patient with classic citrullinemia.

Mol Genet Metab 2012 Jun 23;106(2):248-50. Epub 2012 Mar 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192120011
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http://dx.doi.org/10.1016/j.ymgme.2012.03.011DOI Listing
June 2012

Mitochondrial DNA mutations: an overview of clinical and molecular aspects.

Methods Mol Biol 2012 ;837:3-15

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, USA.

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http://dx.doi.org/10.1007/978-1-61779-504-6_1DOI Listing
April 2012

Restoration of impaired nitric oxide production in MELAS syndrome with citrulline and arginine supplementation.

Mol Genet Metab 2012 Apr 24;105(4):607-14. Epub 2012 Jan 24.

Division of Medical Genetics, Department of Child Health, University of Missouri Health Care, Columbia, MO 65212, USA.

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http://dx.doi.org/10.1016/j.ymgme.2012.01.016DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4093801PMC
April 2012

Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis.

J Hum Genet 2011 Dec 20;56(12):834-9. Epub 2011 Oct 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1038/jhg.2011.112DOI Listing
December 2011

Childhood onset of left ventricular dysfunction in a female manifesting carrier of muscular dystrophy.

Am J Med Genet A 2011 Dec 3;155A(12):3025-9. Epub 2011 Nov 3.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.33784DOI Listing
December 2011

Generation of a novel mouse model that recapitulates early and adult onset glycogenosis type IV.

Hum Mol Genet 2011 Nov 19;20(22):4430-9. Epub 2011 Aug 19.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddr371DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3196891PMC
November 2011

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

J Med Genet 2011 Oct 31;48(10):669-81. Epub 2011 Aug 31.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1136/jmedgenet-2011-100222DOI Listing
October 2011

Noncompaction of the left ventricular myocardium in a boy with a novel chromosome 8p23.1 deletion.

Am J Med Genet A 2011 Sep 10;155A(9):2215-20. Epub 2011 Aug 10.

The Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.34129DOI Listing
September 2011

Animal models of glycogen storage disorders.

Prog Mol Biol Transl Sci 2011 ;100:369-88

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1016/B978-0-12-384878-9.00009-1DOI Listing
July 2011

Dilation of the aortic root in mitochondrial disease patients.

Mol Genet Metab 2011 Jun 18;103(2):167-70. Epub 2011 Feb 18.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030 , USA.

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http://dx.doi.org/10.1016/j.ymgme.2011.02.007DOI Listing
June 2011

Identification of complex chromosome 18 rearrangements by FISH and array CGH in two patients with apparent isochromosome 18q.

Am J Med Genet A 2011 Jun 12;155A(6):1465-8. Epub 2011 May 12.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1002/ajmg.a.33935DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3651890PMC
June 2011

Left ventricular noncompaction in Sotos syndrome.

Am J Med Genet A 2011 May 11;155A(5):1115-8. Epub 2011 Apr 11.

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, USA.

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http://dx.doi.org/10.1002/ajmg.a.33838DOI Listing
May 2011

VDAC3 has differing mitochondrial functions in two types of striated muscles.

Biochim Biophys Acta 2011 Jan 25;1807(1):150-6. Epub 2010 Sep 25.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.bbabio.2010.09.007DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2998388PMC
January 2011

Inhibition of Bak activation by VDAC2 is dependent on the Bak transmembrane anchor.

J Biol Chem 2010 Nov 17;285(47):36876-83. Epub 2010 Sep 17.

La Trobe Institute for Molecular Science, La Trobe University, Melbourne 3086, Australia.

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http://dx.doi.org/10.1074/jbc.M110.159301DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2978617PMC
November 2010

Current molecular diagnostic algorithm for mitochondrial disorders.

Mol Genet Metab 2010 Jun 4;100(2):111-7. Epub 2010 Mar 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2010.02.024DOI Listing
June 2010

MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: new patients and novel mutations.

Mol Genet Metab 2010 Mar 13;99(3):300-8. Epub 2009 Oct 13.

Department of Molecular and Human Genetics, Baylor College of Medicine, 1 Baylor plaza, Houston, TX 77030, USA.

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https://linkinghub.elsevier.com/retrieve/pii/S10967192090028
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http://dx.doi.org/10.1016/j.ymgme.2009.10.003DOI Listing
March 2010

OEIS complex associated with chromosome 1p36 deletion: a case report and review.

Am J Med Genet A 2010 Feb;152A(2):504-11

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33226
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http://dx.doi.org/10.1002/ajmg.a.33226DOI Listing
February 2010

PTPN11 mutation associated with aortic dilation and hypertrophic cardiomyopathy in a pediatric patient with Noonan syndrome.

Pediatr Cardiol 2010 Jan 1;31(1):114-6. Epub 2009 Oct 1.

Section of Pediatric Cardiology, Texas Children's Hospital, 6621 Fannin, MC 19345-C, Houston, TX 77030, USA.

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http://dx.doi.org/10.1007/s00246-009-9537-8DOI Listing
January 2010

Novel cardiac findings in periventricular nodular heterotopia.

Am J Med Genet A 2010 Jan;152A(1):165-8

Section of Pediatric Cardiology, Texas Children's Hospital, Houston, Texas, USA.

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http://doi.wiley.com/10.1002/ajmg.a.33110
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http://dx.doi.org/10.1002/ajmg.a.33110DOI Listing
January 2010

VDAC2 is required for truncated BID-induced mitochondrial apoptosis by recruiting BAK to the mitochondria.

EMBO Rep 2009 Dec 9;10(12):1341-7. Epub 2009 Oct 9.

Department of Pathology, Anatomy and Cell Biology, Thomas Jefferson University, 1020 Locust Street, Suite 261 JAH, Philadelphia, Pennsylvania 19107, USA.

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http://embor.embopress.org/cgi/doi/10.1038/embor.2009.219
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http://dx.doi.org/10.1038/embor.2009.219DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2799216PMC
December 2009

Nek1 regulates cell death and mitochondrial membrane permeability through phosphorylation of VDAC1.

Cell Cycle 2009 Jan 4;8(2):257-67. Epub 2009 Jan 4.

Department of Medicine, Division of Nephrology, The University of Texas Health Science Center at San Antonio, San Antonio, Texas 78229-3900, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2673983PMC
http://dx.doi.org/10.4161/cc.8.2.7551DOI Listing
January 2009

A maxi-chloride channel in the inner membrane of mammalian mitochondria.

Biochim Biophys Acta 2008 Nov 30;1777(11):1438-48. Epub 2008 Aug 30.

CNR Institute of Neuroscience, Department of Biomedical Sciences, University of Padova, Padova, Italy.

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http://dx.doi.org/10.1016/j.bbabio.2008.08.007DOI Listing
November 2008

Genetic strategies for dissecting mammalian and Drosophila voltage-dependent anion channel functions.

J Bioenerg Biomembr 2008 Jun;40(3):207-12

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://link.springer.com/10.1007/s10863-008-9146-x
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http://dx.doi.org/10.1007/s10863-008-9146-xDOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4822497PMC
June 2008

Voltage-dependent anion channels are dispensable for mitochondrial-dependent cell death.

Nat Cell Biol 2007 May 8;9(5):550-5. Epub 2007 Apr 8.

Department of Pediatrics, University of Cincinnati, Cincinnati Children's Hospital Medical Center, Cincinnati, OH 45229, USA.

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http://dx.doi.org/10.1038/ncb1575DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2680246PMC
May 2007

VDAC1 serves as a mitochondrial binding site for hexokinase in oxidative muscles.

Biochim Biophys Acta 2007 Feb 23;1767(2):136-42. Epub 2006 Nov 23.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.bbabio.2006.11.013DOI Listing
February 2007

Two familial cases of high blood galactose of unknown aetiology.

J Inherit Metab Dis 2006 Dec 21;29(6):762. Epub 2006 Sep 21.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1007/s10545-006-0405-xDOI Listing
December 2006

Properties of the permeability transition in VDAC1(-/-) mitochondria.

Biochim Biophys Acta 2006 May-Jun;1757(5-6):590-5. Epub 2006 Mar 9.

Department of Biomedical Sciences, University of Padova, Viale Giuseppe Colombo 3, I-35121 Padova, Italy.

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http://dx.doi.org/10.1016/j.bbabio.2006.02.007DOI Listing
September 2006

Genetic demonstration that the plasma membrane maxianion channel and voltage-dependent anion channels are unrelated proteins.

J Biol Chem 2006 Jan 16;281(4):1897-904. Epub 2005 Nov 16.

Department of Cell Physiology, National Institute for Physiological Sciences, School of Life Science, The Graduate University for Advanced Studies (SOKENDAI), Okazaki 444-8585, Japan.

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http://dx.doi.org/10.1074/jbc.M509482200DOI Listing
January 2006

New insights into the mechanism of permeation through large channels.

Biophys J 2005 Dec 30;89(6):3950-9. Epub 2005 Sep 30.

Department of Biology, University of Maryland, College Park, Maryland 20742, USA.

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http://dx.doi.org/10.1529/biophysj.105.070037DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1366961PMC
December 2005

Genetic predictors and remodeling of dilated cardiomyopathy in muscular dystrophy.

Circulation 2005 Nov 24;112(18):2799-804. Epub 2005 Oct 24.

Department of Cardiology, Texas Heart Institute, St Luke's Episcopal Hospital, Houston, Texas, USA.

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http://dx.doi.org/10.1161/CIRCULATIONAHA.104.528281DOI Listing
November 2005

Mitochondrial voltage-dependent anion channel gene family in Drosophila melanogaster: complex patterns of evolution, genomic organization, and developmental expression.

Mol Genet Metab 2005 Aug;85(4):308-17

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2005.03.009DOI Listing
August 2005

Tissue-dependent alterations in lipid mass in mice lacking glycerol kinase.

Lipids 2005 Mar;40(3):287-93

Department of Pharmacology, University of North Dakota, Grand Forks, North Dakota 58202-9037, USA.

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http://dx.doi.org/10.1007/s11745-005-1384-2DOI Listing
March 2005

Mutations in the D-2-hydroxyglutarate dehydrogenase gene cause D-2-hydroxyglutaric aciduria.

Am J Hum Genet 2005 Feb 17;76(2):358-60. Epub 2004 Dec 17.

Metabolic Unit, Department of Clinical Chemistry, VU University Medical Centre, Amsterdam, The Netherlands.

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http://dx.doi.org/10.1086/427890DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1196381PMC
February 2005

SNP genotyping to screen for a common deletion in CHARGE syndrome.

BMC Med Genet 2005 Feb 14;6. Epub 2005 Feb 14.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas, USA.

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http://dx.doi.org/10.1186/1471-2350-6-8DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC550653PMC
February 2005

Voltage-dependent anion channel-1 (VDAC-1) contributes to ATP release and cell volume regulation in murine cells.

J Gen Physiol 2004 Nov 11;124(5):513-26. Epub 2004 Oct 11.

Cystic Fibrosis/Pulmonary Research and Treatment Center, The University of North Carolina at Chapel Hill, Chapel Hill, NC 27599, USA.

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http://dx.doi.org/10.1085/jgp.200409154DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2234005PMC
November 2004

Genetic approaches to analyzing mitochondrial outer membrane permeability.

Curr Top Dev Biol 2004 ;59:87-118

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1016/S0070-2153(04)59004-XDOI Listing
April 2004

The physiological properties of a novel family of VDAC-like proteins from Drosophila melanogaster.

Biophys J 2004 Jan;86(1 Pt 1):152-62

Department of Biology, University of Maryland, College Park, Maryland 20742, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1303779PMC
http://dx.doi.org/10.1016/S0006-3495(04)74093-XDOI Listing
January 2004

Clinical characterization of left ventricular noncompaction in children: a relatively common form of cardiomyopathy.

Circulation 2003 Nov 17;108(21):2672-8. Epub 2003 Nov 17.

Lillie Frank Abercrombie Division of Pediatric Cardiology, Texas Children's Hospital, 6621 Fannin, Houston 77030, Tex, USA.

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http://dx.doi.org/10.1161/01.CIR.0000100664.10777.B8DOI Listing
November 2003

VDAC2 inhibits BAK activation and mitochondrial apoptosis.

Science 2003 Jul;301(5632):513-7

Howard Hughes Medical Institute, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA 02115, USA.

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http://www.sciencemag.org/cgi/doi/10.1126/science.1083995
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http://dx.doi.org/10.1126/science.1083995DOI Listing
July 2003

Mitochondrial regulation of synaptic plasticity in the hippocampus.

J Biol Chem 2003 May 25;278(20):17727-34. Epub 2003 Feb 25.

Division of Neuroscience, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1074/jbc.M212878200DOI Listing
May 2003