Brett H Graham

Brett H Graham

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Brett H Graham

Brett H Graham

Publications by authors named "Brett H Graham"

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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

An unusual cause for Coffin-Lowry syndrome: Three brothers with a novel microduplication in RPS6KA3.

Am J Med Genet A 2019 Sep 12. Epub 2019 Sep 12.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, Indiana.

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http://dx.doi.org/10.1002/ajmg.a.61353DOI Listing
September 2019

Rapid quantification of underivatized alloisoleucine and argininosuccinate using mixed-mode chromatography with tandem mass spectrometry.

J Chromatogr B Analyt Technol Biomed Life Sci 2019 Sep 5;1128:121786. Epub 2019 Sep 5.

Department of Medical and Molecular Genetics, Indiana University School of Medicine, Indianapolis, IN 46202, United States of America. Electronic address:

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http://dx.doi.org/10.1016/j.jchromb.2019.121786DOI Listing
September 2019

Lysosomal Signaling Promotes Longevity by Adjusting Mitochondrial Activity.

Dev Cell 2019 03 31;48(5):685-696.e5. Epub 2019 Jan 31.

Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Huffington Center on Aging, Baylor College of Medicine, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S15345807183112
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http://dx.doi.org/10.1016/j.devcel.2018.12.022DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6613828PMC
March 2019

Biochemical signatures mimicking multiple carboxylase deficiency in children with mutations in MT-ATP6.

Mitochondrion 2019 01 4;44:58-64. Epub 2018 Jan 4.

Department of Pediatrics, Section of Clinical Genetics and Metabolism, University of Colorado School of Medicine, Aurora, CO, USA; Inherited Metabolic Diseases Clinic, Children's Hospital Colorado, Aurora, CO, USA.

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http://dx.doi.org/10.1016/j.mito.2018.01.001DOI Listing
January 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

Pleiotropic neuropathological and biochemical alterations associated with Myo5a mutation in a rat Model.

Brain Res 2018 01 5;1679:155-170. Epub 2017 Dec 5.

Department of Veterinary Pathobiology, Texas A&M University, College Station, TX, USA. Electronic address:

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http://dx.doi.org/10.1016/j.brainres.2017.11.029DOI Listing
January 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

Analyses of SLC13A5-epilepsy patients reveal perturbations of TCA cycle.

Mol Genet Metab 2017 08 24;121(4):314-319. Epub 2017 Jun 24.

Dept. of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX, United States. Electronic address:

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http://dx.doi.org/10.1016/j.ymgme.2017.06.009DOI Listing
August 2017

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

Authors:
Claire Redin Harrison Brand Ryan L Collins Tammy Kammin Elyse Mitchell Jennelle C Hodge Carrie Hanscom Vamsee Pillalamarri Catarina M Seabra Mary-Alice Abbott Omar A Abdul-Rahman Erika Aberg Rhett Adley Sofia L Alcaraz-Estrada Fowzan S Alkuraya Yu An Mary-Anne Anderson Caroline Antolik Kwame Anyane-Yeboa Joan F Atkin Tina Bartell Jonathan A Bernstein Elizabeth Beyer Ian Blumenthal Ernie M H F Bongers Eva H Brilstra Chester W Brown Hennie T Brüggenwirth Bert Callewaert Colby Chiang Ken Corning Helen Cox Edwin Cuppen Benjamin B Currall Tom Cushing Dezso David Matthew A Deardorff Annelies Dheedene Marc D'Hooghe Bert B A de Vries Dawn L Earl Heather L Ferguson Heather Fisher David R FitzPatrick Pamela Gerrol Daniela Giachino Joseph T Glessner Troy Gliem Margo Grady Brett H Graham Cristin Griffis Karen W Gripp Andrea L Gropman Andrea Hanson-Kahn David J Harris Mark A Hayden Rosamund Hill Ron Hochstenbach Jodi D Hoffman Robert J Hopkin Monika W Hubshman A Micheil Innes Mira Irons Melita Irving Jessie C Jacobsen Sandra Janssens Tamison Jewett John P Johnson Marjolijn C Jongmans Stephen G Kahler David A Koolen Jerome Korzelius Peter M Kroisel Yves Lacassie William Lawless Emmanuelle Lemyre Kathleen Leppig Alex V Levin Haibo Li Hong Li Eric C Liao Cynthia Lim Edward J Lose Diane Lucente Michael J Macera Poornima Manavalan Giorgia Mandrile Carlo L Marcelis Lauren Margolin Tamara Mason Diane Masser-Frye Michael W McClellan Cinthya J Zepeda Mendoza Björn Menten Sjors Middelkamp Liya R Mikami Emily Moe Shehla Mohammed Tarja Mononen Megan E Mortenson Graciela Moya Aggie W Nieuwint Zehra Ordulu Sandhya Parkash Susan P Pauker Shahrin Pereira Danielle Perrin Katy Phelan Raul E Piña Aguilar Pino J Poddighe Giulia Pregno Salmo Raskin Linda Reis William Rhead Debra Rita Ivo Renkens Filip Roelens Jayla Ruliera Patrick Rump Samantha L P Schilit Ranad Shaheen Rebecca Sparkes Erica Spiegel Blair Stevens Matthew R Stone Julia Tagoe Joseph V Thakuria Bregje W van Bon Jiddeke van de Kamp Ineke van Der Burgt Ton van Essen Conny M van Ravenswaaij-Arts Markus J van Roosmalen Sarah Vergult Catharina M L Volker-Touw Dorothy P Warburton Matthew J Waterman Susan Wiley Anna Wilson Maria de la Concepcion A Yerena-de Vega Roberto T Zori Brynn Levy Han G Brunner Nicole de Leeuw Wigard P Kloosterman Erik C Thorland Cynthia C Morton James F Gusella Michael E Talkowski

Nat Genet 2017 01 14;49(1):36-45. Epub 2016 Nov 14.

Molecular Neurogenetics Unit, Center for Human Genetic Research, Department of Neurology, Massachusetts General Hospital, Boston, Massachusetts, USA.

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http://dx.doi.org/10.1038/ng.3720DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5307971PMC
January 2017

Loss of Nardilysin, a Mitochondrial Co-chaperone for α-Ketoglutarate Dehydrogenase, Promotes mTORC1 Activation and Neurodegeneration.

Neuron 2017 Jan 22;93(1):115-131. Epub 2016 Dec 22.

Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Duncan Neurological Research Institute, Texas Children's Hospital, Houston, TX 77030, USA; Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.neuron.2016.11.038DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5242142PMC
January 2017

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

Elevations of C14:1 and C14:2 Plasma Acylcarnitines in Fasted Children: A Diagnostic Dilemma.

J Pediatr 2016 Feb 18;169:208-13.e2. Epub 2015 Nov 18.

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

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http://dx.doi.org/10.1016/j.jpeds.2015.10.045DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4729603PMC
February 2016

Atypical presentation of moyamoya disease in an infant with a de novo RNF213 variant.

Am J Med Genet A 2015 Nov 21;167A(11):2742-7. Epub 2015 Jul 21.

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

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http://dx.doi.org/10.1002/ajmg.a.37230DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4639746PMC
November 2015

Impaired Mitochondrial Energy Production Causes Light-Induced Photoreceptor Degeneration Independent of Oxidative Stress.

PLoS Biol 2015 Jul 15;13(7):e1002197. Epub 2015 Jul 15.

Department of Molecular and Human Genetics, Baylor College of Medicine (BCM), Houston, Texas, United States of America; Howard Hughes Medical Institute, BCM, Houston, Texas, United States of America; Program in Developmental Biology, BCM, Houston, Texas, United States of America; Jan and Dan Duncan Neurological Research Institute, Texas Children's Hospital (TCH), Houston, Texas, United States of America; Department of Neuroscience, BCM, Houston, Texas, United States of America.

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https://dx.plos.org/10.1371/journal.pbio.1002197
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http://dx.doi.org/10.1371/journal.pbio.1002197DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4503542PMC
July 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

Glial lipid droplets and ROS induced by mitochondrial defects promote neurodegeneration.

Cell 2015 Jan;160(1-2):177-90

Department of Neuroscience, Baylor College of Medicine, Houston, TX 77030, USA; Structural and Computational Biology & Molecular Biophysics Graduate Program, Baylor College of Medicine, Houston, TX 77030, USA; Department of Molecular and Human Genetics, Baylor College of Medicine, Houston, TX 77030, USA; Program in Developmental Biology, Baylor College of Medicine, Houston, TX 77030, USA; Jan and Dan Duncan Neurological Research Institute at Texas Children's Hospital, Houston, TX 77030, USA; Howard Hughes Medical Institute, Baylor College of Medicine, Houston, TX 77030, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S00928674140158
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http://dx.doi.org/10.1016/j.cell.2014.12.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4377295PMC
January 2015

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

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

The C8ORF38 homologue Sicily is a cytosolic chaperone for a mitochondrial complex I subunit.

J Cell Biol 2013 Mar;200(6):807-20

Program in Structural and Computational Biology and Molecular Biophysics, Baylor College of Medicine, Houston, TX 77030, USA.

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http://dx.doi.org/10.1083/jcb.201208033DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3601355PMC
March 2013

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

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

Diagnostic challenges of mitochondrial disorders: complexities of two genomes.

Authors:
Brett H Graham

Methods Mol Biol 2012 ;837:35-46

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

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http://link.springer.com/content/pdf/10.1007/978-1-61779-504
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http://link.springer.com/10.1007/978-1-61779-504-6_3
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http://dx.doi.org/10.1007/978-1-61779-504-6_3DOI Listing
April 2012

Measurement of mitochondrial oxygen consumption using a Clark electrode.

Methods Mol Biol 2012 ;837:63-72

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_5DOI Listing
April 2012

Bacteria, yeast, worms, and flies: exploiting simple model organisms to investigate human mitochondrial diseases.

Dev Disabil Res Rev 2010 ;16(2):200-18

Barshop Institute for Longevity and Aging Studies, University of Texas Health Science Center at San Antonio, San Antonio, TX 78245-3207, USA.

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http://doi.wiley.com/10.1002/ddrr.114
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http://dx.doi.org/10.1002/ddrr.114DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3628736PMC
January 2011

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

Activin signaling: effects on body composition and mitochondrial energy metabolism.

Endocrinology 2009 Aug 23;150(8):3521-9. Epub 2009 Apr 23.

Department of Pediatrics, MD Anderson Cancer Center, Baylor College of Medicine, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1210/en.2008-0922DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2717868PMC
August 2009

Two mtDNA mutations 14487T>C (M63V, ND6) and 12297T>C (tRNA Leu) in a Leigh syndrome family.

Mol Genet Metab 2009 Feb 4;96(2):59-65. Epub 2008 Dec 4.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

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http://linkinghub.elsevier.com/retrieve/pii/S109671920800256
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http://dx.doi.org/10.1016/j.ymgme.2008.10.006DOI Listing
February 2009

The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.

Mol Genet Metab 2008 Aug 20;94(4):485-90. Epub 2008 May 20.

Department of Molecular and Human Genetics, Baylor College of Medicine, One Baylor Plaza, NAB 2015, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.ymgme.2008.04.004DOI Listing
August 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

Fine-Lubinsky syndrome: sibling pair suggests possible autosomal recessive inheritance.

Am J Med Genet A 2007 Nov;143A(21):2576-80

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.31688DOI Listing
November 2007

Intrauterine growth retardation and placental vacuolization as presenting features in a case of GM1 gangliosidosis.

J Inherit Metab Dis 2007 Oct 22;30(5):823. Epub 2007 Aug 22.

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

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http://link.springer.com/10.1007/s10545-007-0628-5
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http://dx.doi.org/10.1007/s10545-007-0628-5DOI Listing
October 2007

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

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

Noninvasive, in vivo approaches to evaluating behavior and exercise physiology in mouse models of mitochondrial disease.

Methods 2002 Apr;26(4):364-70

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/S1046-2023(02)00043-9DOI Listing
April 2002