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Michael J. Gambello

Michael J. Gambello

D-Index & Metrics

Genetics

D-Index
46
Citations
11529
World Ranking
4149
National Ranking
1788

Overview

Michael J. Gambello is affiliated with Emory University in the United States. Their research spans medicine and biochemistry, genetics, and molecular biology, with significant contributions in molecular biology, surgery, oncology, physiology, and rheumatology.

Their main topics of work include:

  • Folate and B Vitamins Research
  • Metabolism and Genetic Disorders
  • Tuberous Sclerosis Complex Research
  • Biochemical and Molecular Research
  • NF-κB Signaling Pathways
  • Interferon and Immune Responses
  • Peptidase Inhibition and Analysis

Recent publications by Michael J. Gambello cover a range of genetic and molecular research topics:

  • Phenotypic spectrum and transcriptomic profile associated with germline variants in TRAF7, 2020, Genetics in Medicine
  • Primrose syndrome: Characterization of the phenotype in 42 patients, 2020, Clinical Genetics
  • Hypotrichosis-lymphedema-telangiectasia syndrome: Report of ileal atresia associated with a SOX18 de novo pathogenic variant and review of the phenotypic spectrum, 2021, American Journal of Medical Genetics Part A
  • Ornithine decarboxylase, the rate-limiting enzyme of polyamine synthesis, modifies brain pathology in a mouse model of tuberous sclerosis complex, 2020, Human Molecular Genetics
  • Longitudinal multi-omics reveals pathogenic TSC2 variants disrupt developmental trajectories of human cortical organoids derived from Tuberous Sclerosis Complex, 2024, bioRxiv (Cold Spring Harbor Laboratory)

Frequent co-authors in their research include:

  • Hong Li
  • Paul E. George
  • Bojana Pencheva
  • Christopher C. Porter
  • Laura Castilla-Vallmanya

Michael J. Gambello's work has been published predominantly in:

  • American Journal of Medical Genetics Part A
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Genetics in Medicine
  • Clinical Genetics
  • Human Molecular Genetics

Best Publications

  • Graded reduction of Pafah1b1 (Lis1) activity results in neuronal migration defects and early embryonic lethality

    Shinji Hirotsune;Mark W. Fleck;Michael J. Gambello;Gregory J. Bix

  • A LIS1/NUDEL/Cytoplasmic Dynein Heavy Chain Complex in the Developing and Adult Nervous System

    Shinji Sasaki;Aki Shionoya;Michiyo Ishida;Michael J. Gambello

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

    Teruyuki Tanaka;Finley F. Serneo;Christine Higgins;Michael J. Gambello

  • Regulation of cytoplasmic dynein behaviour and microtubule organization by mammalian Lis1

    Deanna S. Smith;Martin Niethammer;Ramses Ayala;Ying Zhou;Ying Zhou

  • 14-3-3ε is important for neuronal migration by binding to NUDEL: a molecular explanation for Miller–Dieker syndrome

    Kazuhito Toyo-Oka;Aki Shionoya;Michael J. Gambello;Michael J. Gambello;Carlos Cardoso;Carlos Cardoso

  • Tsc2 gene inactivation causes a more severe epilepsy phenotype than Tsc1 inactivation in a mouse model of Tuberous Sclerosis Complex

    Ling-Hui Zeng;Nicholas R. Rensing;Bo Zhang;David H. Gutmann

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

    Gregory M. Enns;Vandana Shashi;Matthew Bainbridge;Michael J. Gambello

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

    Deepak Adhikari;Gilian Flohr;Nagaraju Gorre;Yan Shen

  • Mammalian Target of Rapamycin (mTOR) Activation Increases Axonal Growth Capacity of Injured Peripheral Nerves

    Namiko Abe;Steven H. Borson;Michael J. Gambello;Fan Wang

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

    Latif Rachdi;Norman Balcazar;Fernando Osorio-Duque;Lynda Elghazi

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

    Monika Linke;Ha Thi Thanh Pham;Karl Katholnig;Thomas Schnöller

  • Multiple Dose-Dependent Effects of Lis1 on Cerebral Cortical Development

    Michael J. Gambello;Dawn L. Darling;Jessica Yingling;Teruyuki Tanaka

  • Loss of Tsc2 in Radial Glia Models the Brain Pathology of Tuberous Sclerosis Complex in the Mouse

    Sharon W. Way;James McKenna;Ulrike Mietzsch;R. Michelle Reith

  • LIS1 and dynein motor function in neuronal migration and development

    Anthony Wynshaw-Boris;Michael J. Gambello

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

    R. Michelle Reith;James McKenna;Henry Wu;S. Shahrukh Hashmi

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

    Julia Wynn;Terri M. King;Michael J. Gambello;D. Kim Waller

  • Glucose Regulation of Load‐Induced mTOR Signaling and ER Stress in Mammalian Heart

    Shiraj Sen;Bijoy K. Kundu;Henry Cheng‐Ju Wu;S. Shahrukh Hashmi

  • Hippocampal Abnormalities and Enhanced Excitability in a Murine Model of Human Lissencephaly

    Mark W. Fleck;Shinji Hirotsune;Michael J. Gambello;Emily Phillips-Tansey

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

    Jiyong Liang;Zhi Xiang Xu;Zhi Xiang Xu;Zhiyong Ding;Yiling Lu

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

    K. Toyo-oka;M. J. Gambello;A. Shionoya

Frequent Co-Authors

Anthony Wynshaw-Boris
Anthony Wynshaw-Boris Case Western Reserve University
Jacqueline T. Hecht
Jacqueline T. Hecht The University of Texas Health Science Center at Houston
Priya S. Kishnani
Priya S. Kishnani Duke University
Pramod K. Dash
Pramod K. Dash The University of Texas Health Science Center at Houston
Jill Clayton-Smith
Jill Clayton-Smith University of Manchester
Elaine F. Walker
Elaine F. Walker Emory University
Stanislas Lyonnet
Stanislas Lyonnet Université Paris Cité
Jeanne Amiel
Jeanne Amiel Université Paris Cité
Valérie Cormier-Daire
Valérie Cormier-Daire Necker-Enfants Malades Hospital
Christian P. Schaaf
Christian P. Schaaf Baylor College of Medicine

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