Biallelic Mutations in TBCD, Encoding the Tubulin Folding Cofactor D, Perturb Microtubule Dynamics and Cause Early-Onset Encephalopathy.

Autor: Flex E; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy., Niceta M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Cecchetti S; Department of Cell Biology and Neurosciences, Istituto Superiore di Sanità, Rome 00161, Italy., Thiffault I; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA., Au MG; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Capuano A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Piermarini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Ivanova AA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Francis JW; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Chillemi G; CINECA, SCAI-SuperComputing Applications and Innovation Department, Rome 00185, Italy., Chandramouli B; Scuola Normale Superiore, 56126 Pisa, Italy., Carpentieri G; Department of Hematology, Oncology and Molecular Medicine, Istituto Superiore di Sanità, Rome 00161, Italy; Dipartimento di Medicina Sperimentale, Sapienza Università di Roma, Rome 00161, Italy., Haaxma CA; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Ciolfi A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy; Centro di Ricerca per gli alimenti e la nutrizione, CREA, Rome 00178, Italy., Pizzi S; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Douglas GV; GeneDx, Gaithersburg, MD 20877, USA., Levine K; GeneDx, Gaithersburg, MD 20877, USA., Sferra A; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Dentici ML; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Pfundt RR; Department of Neurology, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Le Pichon JB; Department of Pediatrics, Children's Mercy Hospitals, Kansas City, MO 64108, USA., Farrow E; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA., Baas F; Department of Genome Analysis, Academic Medical Center, Amsterdam 1105, the Netherlands., Piemonte F; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Dallapiccola B; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Graham JM Jr; Department of Pediatrics, Medical Genetics, Cedars-Sinai Medical Center, Los Angeles, CA 90048, USA., Saunders CJ; Center for Pediatric Genomic Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; Department of Pathology and Laboratory Medicine, Children's Mercy Hospital, Kansas City, MO 64108, USA; University of Missouri-Kansas City School of Medicine, Kansas City, MO 64108, USA., Bertini E; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy., Kahn RA; Department of Biochemistry, Emory University School of Medicine, Atlanta, GA 30322, USA., Koolen DA; Department of Human Genetics, Donders Institute for Brain, Cognition and Behaviour, Radboud University Medical Center, Nijmegen 1105, the Netherlands., Tartaglia M; Genetics and Rare Diseases Research Division, Ospedale Pediatrico Bambino Gesù, Rome 00146, Italy. Electronic address: marco.tartaglia@opbg.net.

Publikováno v: American journal of human genetics [Am J Hum Genet] 2016 Oct 06; Vol. 99 (4), pp. 962-973. Date of Electronic Publication: 2016 Sep 22.