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The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.

Autor: Coughlin CR 2nd; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Swanson MA; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Spector E; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA., Meeks NJL; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA., Kronquist KE; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.; Molecular Genetics Laboratory, Department of Pathology and Laboratory Medicine, Children's Hospital Colorado, Aurora, Colorado, 80045, USA., Aslamy M; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA., Wempe MF; School of Pharmacy, Department of Pharmaceutical Sciences, University of Colorado, Anschutz Medical Campus, Aurora, Colorado, 80045, USA., van Karnebeek CDM; Department of Pediatrics and Clinical Genetics, Academic Medical Centre, 1105 AZ Amsterdam, The Netherlands.; Department of Pediatrics, Centre for Molecular Medicine and Therapeutics, University of British Columbia, Vancouver, British Columbia, V5Z4H4, Canada., Gospe SM Jr; Division of Pediatric Neurology, Departments of Neurology and Pediatrics, University of Washington, Seattle, Washington, USA.; Seattle Children's Research Institute, Seattle, Washington, USA., Aziz VG; Seattle Children's Research Institute, Seattle, Washington, USA., Tsai BP; Fulgent Genetics, Temple City, California, 91780, USA., Gao H; Fulgent Genetics, Temple City, California, 91780, USA., Nagy PL; Medical Neurogenetics Laboratories, LLC, Atlanta, Georgia, USA., Hyland K; Medical Neurogenetics Laboratories, LLC, Atlanta, Georgia, USA., van Dooren SJM; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center & Amsterdam Neuroscience, Amsterdam, The Netherlands., Salomons GS; Department of Clinical Chemistry, Metabolic Unit, VU University Medical Center & Amsterdam Neuroscience, Amsterdam, The Netherlands., Van Hove JLK; Section of Clinical Genetics and Metabolism, Department of Pediatrics, University of Colorado School of Medicine, Aurora, Colorado, USA.

Publikováno v: Journal of inherited metabolic disease [J Inherit Metab Dis] 2019 Mar; Vol. 42 (2), pp. 353-361. Date of Electronic Publication: 2019 Feb 22.

A novel Bcr-Abl-mTOR-eIF4A axis regulates IRES-mediated translation of LEF-1.

Autor: Tsai BP; Department of Microbiology and Molecular Genetics, School of Medicine, University of California, Irvine, CA, USA., Jimenez J; Department of Microbiology and Molecular Genetics, School of Medicine, University of California, Irvine, CA, USA., Lim S; Cancer and Stem Cell Biology Signature Research Program, Duke-NUS Graduate Medical School, Singapore Department of Haematology, Singapore General Hospital, Singapore., Fitzgerald KD; Department of Microbiology and Molecular Genetics, School of Medicine, University of California, Irvine, CA, USA., Zhang M; Division of Hematology/Oncology, Department of Medicine, School of Medicine, University of California, Irvine, CA, USA., Chuah CT; Cancer and Stem Cell Biology Signature Research Program, Duke-NUS Graduate Medical School, Singapore Department of Haematology, Singapore General Hospital, Singapore., Axelrod H; Department of Microbiology and Molecular Genetics, School of Medicine, University of California, Irvine, CA, USA., Wilson L; Department of Microbiology and Molecular Genetics, School of Medicine, University of California, Irvine, CA, USA., Ong ST; Cancer and Stem Cell Biology Signature Research Program, Duke-NUS Graduate Medical School, Singapore Department of Haematology, Singapore General Hospital, Singapore Department of Medical Oncology, National Cancer Centre, Singapore Department of Medicine, Duke University Medical Center, Durham, NC, USA., Semler BL; Department of Microbiology and Molecular Genetics, School of Medicine, University of California, Irvine, CA, USA., Waterman ML; Department of Microbiology and Molecular Genetics, School of Medicine, University of California, Irvine, CA, USA marian.waterman@uci.edu.

Publikováno v: Open biology [Open Biol] 2014 Nov; Vol. 4 (11), pp. 140180.