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Duarte Variant Galactosemia.

Fridovich-Keil JL, Gambello MJ, Singh RH, Sharer JD.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2014 Dec 4 [updated 2019 May 23].


Clinical characteristics and genotypes in the ADVANCE baseline data set, a comprehensive cohort of US children and adolescents with Pompe disease.

Kishnani PS, Gibson JB, Gambello MJ, Hillman R, Stockton DW, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Day JW, Wang RY, Goldstein JL, An Haack K, Sparks SE, Zhao Y, Hahn SH; Pompe ADVANCE Study Consortium.

Genet Med. 2019 May 14. doi: 10.1038/s41436-019-0527-9. [Epub ahead of print]


Novel mTORC1 Mechanism Suggests Therapeutic Targets for COMPopathies.

Posey KL, Coustry F, Veerisetty AC, Hossain MG, Gambello MJ, Hecht JT.

Am J Pathol. 2019 Jan;189(1):132-146. doi: 10.1016/j.ajpath.2018.09.008.


The first pediatric case of glucagon receptor defect due to biallelic mutations in GCGR is identified by newborn screening of elevated arginine.

Li H, Zhao L, Singh R, Ham JN, Fadoju DO, Bean LJH, Zhang Y, Xu Y, Xu HE, Gambello MJ.

Mol Genet Metab Rep. 2018 Oct 2;17:46-52. doi: 10.1016/j.ymgmr.2018.09.006. eCollection 2018 Dec.


Megaloblastic Anemia Progressing to Severe Thrombotic Microangiopathy in Patients with Disordered Vitamin B12 Metabolism: Case Reports and Literature Review.

Mullikin D, Pillai N, Sanchez R, O'Donnell-Luria AH, Kritzer A, Tal L, Almannai M, Berry GT, Gambello MJ, Li H, Graham B, Srivaths L, Sutton VR, Grimes A.

J Pediatr. 2018 Nov;202:315-319.e2. doi: 10.1016/j.jpeds.2018.06.054. Epub 2018 Jul 26. Review.


Study protocol for The Emory 3q29 Project: evaluation of neurodevelopmental, psychiatric, and medical symptoms in 3q29 deletion syndrome.

Murphy MM, Lindsey Burrell T, Cubells JF, España RA, Gambello MJ, Goines KCB, Klaiman C, Li L, Novacek DM, Papetti A, Sanchez Russo RL, Saulnier CA, Shultz S, Walker E, Mulle JG.

BMC Psychiatry. 2018 Jun 8;18(1):183. doi: 10.1186/s12888-018-1760-5.


Metabolomic studies identify changes in transmethylation and polyamine metabolism in a brain-specific mouse model of tuberous sclerosis complex.

McKenna J 3rd, Kapfhamer D, Kinchen JM, Wasek B, Dunworth M, Murray-Stewart T, Bottiglieri T, Casero RA Jr, Gambello MJ.

Hum Mol Genet. 2018 Jun 15;27(12):2113-2124. doi: 10.1093/hmg/ddy118.


Efficacy, safety profile, and immunogenicity of alglucosidase alfa produced at the 4,000-liter scale in US children and adolescents with Pompe disease: ADVANCE, a phase IV, open-label, prospective study.

Hahn SH, Kronn D, Leslie ND, Pena LDM, Tanpaiboon P, Gambello MJ, Gibson JB, Hillman R, Stockton DW, Day JW, Wang RY, An Haack K, Shafi R, Sparks S, Zhao Y, Wilson C, Kishnani PS; Pompe ADVANCE Study Consortium.

Genet Med. 2018 Oct;20(10):1284-1294. doi: 10.1038/gim.2018.2. Epub 2018 Mar 22.


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

Li H, Byers HM, Diaz-Kuan A, Vos MB, Hall PL, Tortorelli S, Singh R, Wallenstein MB, Allain M, Dimmock DP, Farrell RM, McCandless S, Gambello MJ.

Mol Genet Metab. 2018 Apr;123(4):428-432. doi: 10.1016/j.ymgme.2018.02.016. Epub 2018 Feb 27.


Current strategies for the treatment of inborn errors of metabolism.

Gambello MJ, Li H.

J Genet Genomics. 2018 Feb 20;45(2):61-70. doi: 10.1016/j.jgg.2018.02.001. Epub 2018 Feb 14. Review.


Natural history and genotype-phenotype correlations in 72 individuals with SATB2-associated syndrome.

Zarate YA, Smith-Hicks CL, Greene C, Abbott MA, Siu VM, Calhoun ARUL, Pandya A, Li C, Sellars EA, Kaylor J, Bosanko K, Kalsner L, Basinger A, Slavotinek AM, Perry H, Saenz M, Szybowska M, Wilson LC, Kumar A, Brain C, Balasubramanian M, Dubbs H, Ortiz-Gonzalez XR, Zackai E, Stein Q, Powell CM, Schrier Vergano S, Britt A, Sun A, Smith W, Bebin EM, Picker J, Kirby A, Pinz H, Bombei H, Mahida S, Cohen JS, Fatemi A, Vernon HJ, McClellan R, Fleming LR, Knyszek B, Steinraths M, Velasco Gonzalez C, Beck AE, Golden-Grant KL, Egense A, Parikh A, Raimondi C, Angle B, Allen W, Schott S, Algrabli A, Robin NH, Ray JW, Everman DB, Gambello MJ, Chung WK.

Am J Med Genet A. 2018 Apr;176(4):925-935. doi: 10.1002/ajmg.a.38630. Epub 2018 Feb 13.


MPV17-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects.

El-Hattab AW, Wang J, Dai H, Almannai M, Staufner C, Alfadhel M, Gambello MJ, Prasun P, Raza S, Lyons HJ, Afqi M, Saleh MAM, Faqeih EA, Alzaidan HI, Alshenqiti A, Flore LA, Hertecant J, Sacharow S, Barbouth DS, Murayama K, Shah AA, Lin HC, Wong LC.

Hum Mutat. 2018 Apr;39(4):461-470. doi: 10.1002/humu.23387. Epub 2018 Jan 13.


3q29 Recurrent Deletion.

Mulle JG, Gambello MJ, Cook EH, Rutkowski TP, Glassford M.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2016 Sep 22 [updated 2017 Oct 19].


Recessive mutations in NDUFA2 cause mitochondrial leukoencephalopathy.

Perrier S, Gauquelin L, Tétreault M, Tran LT, Webb N, Srour M, Mitchell JJ, Brunel-Guitton C, Majewski J, Long V, Keller S, Gambello MJ, Simons C; Care4Rare Canada Consortium, Vanderver A, Bernard G.

Clin Genet. 2018 Feb;93(2):396-400. doi: 10.1111/cge.13126. Epub 2017 Dec 21.


Chronic signaling via the metabolic checkpoint kinase mTORC1 induces macrophage granuloma formation and marks sarcoidosis progression.

Linke M, Pham HT, Katholnig K, Schnöller T, Miller A, Demel F, Schütz B, Rosner M, Kovacic B, Sukhbaatar N, Niederreiter B, Blüml S, Kuess P, Sexl V, Müller M, Mikula M, Weckwerth W, Haschemi A, Susani M, Hengstschläger M, Gambello MJ, Weichhart T.

Nat Immunol. 2017 Mar;18(3):293-302. doi: 10.1038/ni.3655. Epub 2017 Jan 16.


The complex behavioral phenotype of 15q13.3 microdeletion syndrome.

Ziats MN, Goin-Kochel RP, Berry LN, Ali M, Ge J, Guffey D, Rosenfeld JA, Bader P, Gambello MJ, Wolf V, Penney LS, Miller R, Lebel RR, Kane J, Bachman K, Troxell R, Clark G, Minard CG, Stankiewicz P, Beaudet A, Schaaf CP.

Genet Med. 2016 Nov;18(11):1111-1118. doi: 10.1038/gim.2016.9. Epub 2016 Mar 10.


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

Sharma GB, Robertson DD, Laney DA, Gambello MJ, Terk M.

J Biomech. 2016 Jun 14;49(9):1961-1968. doi: 10.1016/j.jbiomech.2016.04.010. Epub 2016 Apr 13.


mTOR Hyperactivation by Ablation of Tuberous Sclerosis Complex 2 in the Mouse Heart Induces Cardiac Dysfunction with the Increased Number of Small Mitochondria Mediated through the Down-Regulation of Autophagy.

Taneike M, Nishida K, Omiya S, Zarrinpashneh E, Misaka T, Kitazume-Taneike R, Austin R, Takaoka M, Yamaguchi O, Gambello MJ, Shah AM, Otsu K.

PLoS One. 2016 Mar 29;11(3):e0152628. doi: 10.1371/journal.pone.0152628. eCollection 2016.


Reduction of Plasma Globotriaosylsphingosine Levels After Switching from Agalsidase Alfa to Agalsidase Beta as Enzyme Replacement Therapy for Fabry Disease.

Goker-Alpan O, Gambello MJ, Maegawa GH, Nedd KJ, Gruskin DJ, Blankstein L, Weinreb NJ.

JIMD Rep. 2016;25:95-106. Epub 2015 Aug 25.


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

Liang J, Xu ZX, Ding Z, Lu Y, Yu Q, Werle KD, Zhou G, Park YY, Peng G, Gambello MJ, Mills GB.

Nat Commun. 2015 Aug 14;6:7926. doi: 10.1038/ncomms8926.


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

Moon UY, Park JY, Park R, Cho JY, Hughes LJ, McKenna J 3rd, Goetzl L, Cho SH, Crino PB, Gambello MJ, Kim S.

Cell Rep. 2015 Aug 11;12(6):965-78. doi: 10.1016/j.celrep.2015.07.013. Epub 2015 Jul 30.


Genetics in the twenty-first century. Preface.

Gambello MJ, Sutton VR.

Clin Perinatol. 2015 Jun;42(2):xxi-xxii. doi: 10.1016/j.clp.2015.04.001. No abstract available.


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

Rozas NS, Redell JB, Pita-Almenar JD, Mckenna J 3rd, Moore AN, Gambello MJ, Dash PK.

Learn Mem. 2015 Apr 15;22(5):239-46. doi: 10.1101/lm.038265.115. Print 2015 May.


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

Rozas NS, Redell JB, McKenna J 3rd, Moore AN, Gambello MJ, Dash PK.

Biochem Biophys Res Commun. 2015 Feb 20;457(4):635-9. doi: 10.1016/j.bbrc.2015.01.039. Epub 2015 Jan 19.


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

Rozas NS, Redell JB, Hill JL, McKenna J 3rd, Moore AN, Gambello MJ, Dash PK.

J Neurotrauma. 2015 Jan 15;32(2):149-58. doi: 10.1089/neu.2014.3469. Epub 2014 Dec 10.


Mutations in NGLY1 cause an inherited disorder of the endoplasmic reticulum-associated degradation pathway.

Enns GM, Shashi V, Bainbridge M, Gambello MJ, Zahir FR, Bast T, Crimian R, Schoch K, Platt J, Cox R, Bernstein JA, Scavina M, Walter RS, Bibb A, Jones M, Hegde M, Graham BH, Need AC, Oviedo A, Schaaf CP, Boyle S, Butte AJ, Chen R, Chen R, Clark MJ, Haraksingh R; FORGE Canada Consortium, Cowan TM, He P, Langlois S, Zoghbi HY, Snyder M, Gibbs RA, Freeze HH, Goldstein DB.

Genet Med. 2014 Oct;16(10):751-8. doi: 10.1038/gim.2014.22. Epub 2014 Mar 20. Erratum in: Genet Med. 2014 Jul;16(7):568. Chen, Rui [added].


AKT1 gene mutation levels are correlated with the type of dermatologic lesions in patients with Proteus syndrome.

Lindhurst MJ, Wang JA, Bloomhardt HM, Witkowski AM, Singh LN, Bick DP, Gambello MJ, Powell CM, Lee CR, Darling TN, Biesecker LG.

J Invest Dermatol. 2014 Feb;134(2):543-546. doi: 10.1038/jid.2013.312. Epub 2013 Jul 24. No abstract available.


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

Mietzsch U, McKenna J 3rd, Reith RM, Way SW, Gambello MJ.

J Comp Neurol. 2013 Nov;521(16):3817-31. doi: 10.1002/cne.23380.


Kuskokwim syndrome, a recessive congenital contracture disorder, extends the phenotype of FKBP10 mutations.

Barnes AM, Duncan G, Weis M, Paton W, Cabral WA, Mertz EL, Makareeva E, Gambello MJ, Lacbawan FL, Leikin S, Fertala A, Eyre DR, Bale SJ, Marini JC.

Hum Mutat. 2013 Sep;34(9):1279-88. doi: 10.1002/humu.22362. Epub 2013 Jul 8.


Glucose regulation of load-induced mTOR signaling and ER stress in mammalian heart.

Sen S, Kundu BK, Wu HC, Hashmi SS, Guthrie P, Locke LW, Roy RJ, Matherne GP, Berr SS, Terwelp M, Scott B, Carranza S, Frazier OH, Glover DK, Dillmann WH, Gambello MJ, Entman ML, Taegtmeyer H.

J Am Heart Assoc. 2013 May 17;2(3):e004796. doi: 10.1161/JAHA.113.004796.


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

Gabitzsch EK, Hashmi SS, Koenig MK, Raia MH, Whittemore VH, Northrup H, Nader S, Gambello MJ.

Genet Med. 2013 Dec;15(12):966-71. doi: 10.1038/gim.2013.60. Epub 2013 May 9.


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

Reith RM, McKenna J, Wu H, Hashmi SS, Cho SH, Dash PK, Gambello MJ.

Neurobiol Dis. 2013 Mar;51:93-103. doi: 10.1016/j.nbd.2012.10.014. Epub 2012 Nov 1.


14-3-3ε plays a role in cardiac ventricular compaction by regulating the cardiomyocyte cell cycle.

Kosaka Y, Cieslik KA, Li L, Lezin G, Maguire CT, Saijoh Y, Toyo-oka K, Gambello MJ, Vatta M, Wynshaw-Boris A, Baldini A, Yost HJ, Brunelli L.

Mol Cell Biol. 2012 Dec;32(24):5089-102. doi: 10.1128/MCB.00829-12. Epub 2012 Oct 15.


The differential effects of prenatal and/or postnatal rapamycin on neurodevelopmental defects and cognition in a neuroglial mouse model of tuberous sclerosis complex.

Way SW, Rozas NS, Wu HC, McKenna J 3rd, Reith RM, Hashmi SS, Dash PK, Gambello MJ.

Hum Mol Genet. 2012 Jul 15;21(14):3226-36. doi: 10.1093/hmg/dds156. Epub 2012 Apr 24.


Metabotropic glutamate receptor-dependent long-term depression is impaired due to elevated ERK signaling in the ΔRG mouse model of tuberous sclerosis complex.

Chévere-Torres I, Kaphzan H, Bhattacharya A, Kang A, Maki JM, Gambello MJ, Arbiser JL, Santini E, Klann E.

Neurobiol Dis. 2012 Mar;45(3):1101-10. doi: 10.1016/j.nbd.2011.12.028. Epub 2011 Dec 16.


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

Reith RM, Way S, McKenna J 3rd, Haines K, Gambello MJ.

Neurobiol Dis. 2011 Jul;43(1):113-22. doi: 10.1016/j.nbd.2011.02.014. Epub 2011 Mar 17.


Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of tuberous sclerosis complex.

Zeng LH, Rensing NR, Zhang B, Gutmann DH, Gambello MJ, Wong M.

Hum Mol Genet. 2011 Feb 1;20(3):445-54. doi: 10.1093/hmg/ddq491. Epub 2010 Nov 9.


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

Abe N, Borson SH, Gambello MJ, Wang F, Cavalli V.

J Biol Chem. 2010 Sep 3;285(36):28034-43. doi: 10.1074/jbc.M110.125336. Epub 2010 Jul 8.


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

Kim S, Lehtinen MK, Sessa A, Zappaterra MW, Cho SH, Gonzalez D, Boggan B, Austin CA, Wijnholds J, Gambello MJ, Malicki J, LaMantia AS, Broccoli V, Walsh CA.

Neuron. 2010 Apr 15;66(1):69-84. doi: 10.1016/j.neuron.2010.03.019.


Thoracic aortic disease in tuberous sclerosis complex: molecular pathogenesis and potential therapies in Tsc2+/- mice.

Cao J, Gong L, Guo DC, Mietzsch U, Kuang SQ, Kwartler CS, Safi H, Estrera A, Gambello MJ, Milewicz DM.

Hum Mol Genet. 2010 May 15;19(10):1908-20. doi: 10.1093/hmg/ddq066. Epub 2010 Feb 16.


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

Adhikari D, Flohr G, Gorre N, Shen Y, Yang H, Lundin E, Lan Z, Gambello MJ, Liu K.

Mol Hum Reprod. 2009 Dec;15(12):765-70. doi: 10.1093/molehr/gap092. Epub 2009 Oct 20.


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

Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Hum Genet. 2009 Aug;126(2):342. No abstract available.


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

Dimmock D, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Hum Genet. 2009 Aug;126(2):341. No abstract available.


Fetal trisomy 21 and the risk of preeclampsia.

Defant J, Gambello MJ, Monga M, Langlois PH, Noblin SJ, Vidaeff AC.

J Matern Fetal Neonatal Med. 2010 Jan;23(1):55-9. doi: 10.3109/14767050903118288.


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

Way SW, McKenna J 3rd, Mietzsch U, Reith RM, Wu HC, Gambello MJ.

Hum Mol Genet. 2009 Apr 1;18(7):1252-65. doi: 10.1093/hmg/ddp025. Epub 2009 Jan 15.


The role of molecular testing and enzyme analysis in the management of hypomorphic citrullinemia.

Dimmock DP, Trapane P, Feigenbaum A, Keegan CE, Cederbaum S, Gibson J, Gambello MJ, Vaux K, Ward P, Rice GM, Wolff JA, O'Brien WE, Fang P.

Am J Med Genet A. 2008 Nov 15;146A(22):2885-90. doi: 10.1002/ajmg.a.32527. Erratum in: Am J Med Genet A. 2010 Apr;152A(4):1061.


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

Rachdi L, Balcazar N, Osorio-Duque F, Elghazi L, Weiss A, Gould A, Chang-Chen KJ, Gambello MJ, Bernal-Mizrachi E.

Proc Natl Acad Sci U S A. 2008 Jul 8;105(27):9250-5. doi: 10.1073/pnas.0803047105. Epub 2008 Jun 27.


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

Husain T, Langlois PH, Sever LE, Gambello MJ.

Birth Defects Res A Clin Mol Teratol. 2008 Jun;82(6):435-40. doi: 10.1002/bdra.20449.


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

Wynn J, King TM, Gambello MJ, Waller DK, Hecht JT.

Am J Med Genet A. 2007 Nov 1;143A(21):2502-11.


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