Michael J Gambello

Michael J Gambello

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Michael J Gambello

Michael J Gambello

Publications by authors named "Michael J Gambello"

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Novel mTORC1 Mechanism Suggests Therapeutic Targets for COMPopathies.

Am J Pathol 2019 01;189(1):132-146

Department of Pediatrics, McGovern Medical School, University of Texas Health Science Center, Houston, Texas; School of Dentistry, University of Texas Health Science Center, Houston, Texas.

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http://dx.doi.org/10.1016/j.ajpath.2018.09.008DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6412713PMC
January 2019

Acute liver failure in neonates with undiagnosed hereditary fructose intolerance due to exposure from widely available infant formulas.

Mol Genet Metab 2018 04 27;123(4):428-432. Epub 2018 Feb 27.

Department of Human Genetics, School of Medicine, Emory University, Atlanta, GA, United States; Department of Pediatrics, School of Medicine, Emory University, Children's Healthcare of Atlanta, Atlanta, GA, United States.

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http://dx.doi.org/10.1016/j.ymgme.2018.02.016DOI Listing
April 2018

Current strategies for the treatment of inborn errors of metabolism.

J Genet Genomics 2018 02 14;45(2):61-70. Epub 2018 Feb 14.

Department of Human Genetics, Emory University School of Medicine, Atlanta, GA 30322, USA. Electronic address:

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http://dx.doi.org/10.1016/j.jgg.2018.02.001DOI Listing
February 2018

Machine learning based analytics of micro-MRI trabecular bone microarchitecture and texture in type 1 Gaucher disease.

J Biomech 2016 06 13;49(9):1961-1968. Epub 2016 Apr 13.

Emory University, Department of Radiology and Imaging Sciences, Division of Musculoskeletal Imaging, Department of Orthopaedic Surgery, Emory Spine and Orthopaedics Center, Atlanta, GA, USA.

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http://dx.doi.org/10.1016/j.jbiomech.2016.04.010DOI Listing
June 2016

Immune Tolerance Strategies in Siblings with Infantile Pompe Disease-Advantages for a Preemptive Approach to High-Sustained Antibody Titers.

Mol Genet Metab Rep 2015 Sep;4:30-34

Division of Medical Genetics, Department of Pediatrics, Duke University Medical Center, Durham, NC, United States.

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http://dx.doi.org/10.1016/j.ymgmr.2015.05.004DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4497810PMC
September 2015

Impaired Reelin-Dab1 Signaling Contributes to Neuronal Migration Deficits of Tuberous Sclerosis Complex.

Cell Rep 2015 Aug 30;12(6):965-78. Epub 2015 Jul 30.

Shriners Hospitals Pediatric Research Center, Temple University School of Medicine, Philadelphia, PA 19140, USA; Department of Anatomy and Cell Biology, Temple University School of Medicine, Philadelphia, PA 19140, USA. Electronic address:

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https://linkinghub.elsevier.com/retrieve/pii/S22111247150075
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http://dx.doi.org/10.1016/j.celrep.2015.07.013DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4536164PMC
August 2015

Myristoylation confers noncanonical AMPK functions in autophagy selectivity and mitochondrial surveillance.

Nat Commun 2015 Aug 14;6:7926. Epub 2015 Aug 14.

Department of Systems Biology, The University of Texas MD Anderson Cancer Center, 1515 Holcombe Boulevard, Houston, Texas 77030, USA.

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http://dx.doi.org/10.1038/ncomms8926DOI Listing
August 2015

Genetics in the twenty-first century. Preface.

Clin Perinatol 2015 Jun;42(2):xxi-xxii

Department of Molecular & Human Genetics, Baylor College of Medicine & Texas Children's Hospital, 6701 Fannin Street, Suite 1560, Houston, TX 77030, USA. Electronic address:

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http://dx.doi.org/10.1016/j.clp.2015.04.001DOI Listing
June 2015

Intrahippocampal glutamine administration inhibits mTORC1 signaling and impairs long-term memory.

Learn Mem 2015 May 15;22(5):239-46. Epub 2015 Apr 15.

Department of Neurobiology and Anatomy, The University of Texas Medical School, Houston, Texas 77225, USA

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http://dx.doi.org/10.1101/lm.038265.115DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4408772PMC
May 2015

Prolonging the survival of Tsc2 conditional knockout mice by glutamine supplementation.

Biochem Biophys Res Commun 2015 Feb 19;457(4):635-9. Epub 2015 Jan 19.

Department of Neurobiology and Anatomy, The University of Texas Medical School, Houston, TX 77225, USA. Electronic address:

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http://dx.doi.org/10.1016/j.bbrc.2015.01.039DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4386275PMC
February 2015

Genetic activation of mTORC1 signaling worsens neurocognitive outcome after traumatic brain injury.

J Neurotrauma 2015 Jan 10;32(2):149-58. Epub 2014 Dec 10.

1 Department of Neurobiology and Anatomy, the University of Texas Medical School , Houston, Texas.

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http://dx.doi.org/10.1089/neu.2014.3469DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4291161PMC
January 2015

Self-reported reproductive health in women with tuberous sclerosis complex.

Genet Med 2013 Dec 9;15(12):966-71. Epub 2013 May 9.

1] Genetic Counseling Program, Graduate School of Biomedical Science, University of Texas Health Science Center at Houston, Houston, Texas, USA [2] Current address: Center for Personalized Healthcare, Cleveland Clinic, Cleveland, Ohio, USA (E.K.G.) Department of Human Genetics, Emory University School of Medicine, Atlanta, Georgia, USA (M.J.G.).

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http://dx.doi.org/10.1038/gim.2013.60DOI Listing
December 2013

Comparative analysis of Tsc1 and Tsc2 single and double radial glial cell mutants.

J Comp Neurol 2013 Nov;521(16):3817-31

Department of Pediatrics/Neonatology, Indiana School of Medicine, Indianapolis, Indiana, 46202.

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http://dx.doi.org/10.1002/cne.23380DOI Listing
November 2013

Loss of Tsc2 in Purkinje cells is associated with autistic-like behavior in a mouse model of tuberous sclerosis complex.

Neurobiol Dis 2013 Mar 1;51:93-103. Epub 2012 Nov 1.

Program in Human and Molecular Genetics, UT Health, Houston, TX, USA.

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http://dx.doi.org/10.1016/j.nbd.2012.10.014DOI Listing
March 2013

Loss of the tuberous sclerosis complex protein tuberin causes Purkinje cell degeneration.

Neurobiol Dis 2011 Jul 17;43(1):113-22. Epub 2011 Mar 17.

University of Texas Health Science Center at Houston, Department of Pediatrics, Division of Medical Genetics, Houston, TX 77030, USA.

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http://dx.doi.org/10.1016/j.nbd.2011.02.014DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3096682PMC
July 2011

Mammalian target of rapamycin (mTOR) activation increases axonal growth capacity of injured peripheral nerves.

J Biol Chem 2010 Sep 8;285(36):28034-43. Epub 2010 Jul 8.

Department of Anatomy and Neurobiology, Washington University in St. Louis, School of Medicine, St. Louis, Missouri 63110, USA.

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http://www.jbc.org/lookup/doi/10.1074/jbc.M110.125336
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http://dx.doi.org/10.1074/jbc.M110.125336DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2934668PMC
September 2010

The apical complex couples cell fate and cell survival to cerebral cortical development.

Neuron 2010 Apr;66(1):69-84

Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Division of Genetics, Children's Hospital Boston, Harvard Medical School, Boston, MA 02115, USA.

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http://dx.doi.org/10.1016/j.neuron.2010.03.019DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2872122PMC
April 2010

Fetal trisomy 21 and the risk of preeclampsia.

J Matern Fetal Neonatal Med 2010 Jan;23(1):55-9

Department of Obstetrics, Gynecology and Reproductive Sciences, University of Texas Medical School, Houston, Texas 77030, USA.

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http://www.tandfonline.com/doi/full/10.3109/1476705090311828
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http://dx.doi.org/10.3109/14767050903118288DOI Listing
January 2010

Disruption of Tsc2 in oocytes leads to overactivation of the entire pool of primordial follicles.

Mol Hum Reprod 2009 Dec 20;15(12):765-70. Epub 2009 Oct 20.

Department of Medical Biochemistry and Biophysics, Umeå University SE-901 87, Umeå, Sweden.

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http://dx.doi.org/10.1093/molehr/gap092DOI Listing
December 2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):341

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Novel human pathological mutations. Gene symbol: ASS1. Disease: Citrullinaemia.

Hum Genet 2009 Aug;126(2):342

Pediatrics, Medical College of Wisconsin, Genetics Lab: HRC PD169, Milwaukee, 53226, USA.

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August 2009

Loss of Tsc2 in radial glia models the brain pathology of tuberous sclerosis complex in the mouse.

Hum Mol Genet 2009 Apr 15;18(7):1252-65. Epub 2009 Jan 15.

Division of Medical Genetics, Department of Pediatrics, University of Texas Health Science Center, Houston, TX 77030, USA.

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http://dx.doi.org/10.1093/hmg/ddp025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2655769PMC
April 2009

Disruption of Tsc2 in pancreatic beta cells induces beta cell mass expansion and improved glucose tolerance in a TORC1-dependent manner.

Proc Natl Acad Sci U S A 2008 Jul 27;105(27):9250-5. Epub 2008 Jun 27.

Division of Endocrinology, Metabolism, and Lipid Research, Washington University School of Medicine, 660 South Euclid Avenue, Campus Box 8127, St. Louis, MO 63110, USA.

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http://dx.doi.org/10.1073/pnas.0803047105DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2453727PMC
July 2008

Descriptive epidemiologic features shared by birth defects thought to be related to vascular disruption in Texas, 1996-2002.

Birth Defects Res A Clin Mol Teratol 2008 Jun;82(6):435-40

Division of Health Promotion and Behavioral Sciences, University of Texas Health Science Center at Houston, School of Public Health, 1200 Herman Pressler, Houston, Texas 77054, USA.

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http://doi.wiley.com/10.1002/bdra.20449
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http://dx.doi.org/10.1002/bdra.20449DOI Listing
June 2008

Mortality in achondroplasia study: a 42-year follow-up.

Am J Med Genet A 2007 Nov;143A(21):2502-11

Department of Pediatrics, University of Texas Health Science Center at Houston, Texas 77030, USA.

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http://dx.doi.org/10.1002/ajmg.a.31919DOI Listing
November 2007

Generation of a conditional disruption of the Tsc2 gene.

Genesis 2007 Feb;45(2):101-6

Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center, Houston 77030, USA.

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http://dx.doi.org/10.1002/dvg.20271DOI Listing
February 2007

Exercise intolerance associated with a novel 8300T > C mutation in mitochondrial transfer RNAlys.

Muscle Nerve 2006 Oct;34(4):437-43

Department of Pediatrics, Division of Medical Genetics, University of Texas Health Science Center, Houston, Texas, USA.

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http://dx.doi.org/10.1002/mus.20605DOI Listing
October 2006

A patient with isochromosome 18q, radial-thumb aplasia, thrombocytopenia, and an unbalanced 10;18 chromosome translocation.

Am J Med Genet A 2005 Feb;133A(1):93-8

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.30535DOI Listing
February 2005

Molecular genetic basis of tuberous sclerosis complex: from bench to bedside.

J Child Neurol 2004 Sep;19(9):699-709

Department of Pediatrics, Division of Medical Genetics, The University of Texas Medical School at Houston, Houston, TX 77030, USA.

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http://dx.doi.org/10.1177/08830738040190091101DOI Listing
September 2004

Lis1 and doublecortin function with dynein to mediate coupling of the nucleus to the centrosome in neuronal migration.

J Cell Biol 2004 Jun 1;165(5):709-21. Epub 2004 Jun 1.

Department of Neurosciences, University of California, San Diego, La Jolla 92093-0624, USA.

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http://dx.doi.org/10.1083/jcb.200309025DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC2172383PMC
June 2004

Loss of the Max-interacting protein Mnt in mice results in decreased viability, defective embryonic growth and craniofacial defects: relevance to Miller-Dieker syndrome.

Hum Mol Genet 2004 May 17;13(10):1057-67. Epub 2004 Mar 17.

Department of Pediatrics, UCSD Cancer Center, University of California, San Diego School of Medicine, La Jolla 92093-0627, USA.

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http://dx.doi.org/10.1093/hmg/ddh116DOI Listing
May 2004

14-3-3epsilon is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller-Dieker syndrome.

Nat Genet 2003 Jul;34(3):274-85

Department of Pediatrics, UCSD Cancer Center, University of California, San Diego School of Medicine, 9500 Gilman Drive, Mailstop 0627, La Jolla, California 92093-0627, USA.

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http://dx.doi.org/10.1038/ng1169DOI Listing
July 2003

Multiple dose-dependent effects of Lis1 on cerebral cortical development.

J Neurosci 2003 Mar;23(5):1719-29

Department of Pediatrics and Medicine, University of California, San Diego, La Jolla, California 92093-0627, USA.

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http://www.ncbi.nlm.nih.gov/pmc/articles/PMC6741979PMC
March 2003