Richard Chang
University of California, Irvine
26 Papers
47 Citations
Richard Chang is an academic researcher from University of California, Irvine. The author has contributed to research in topics: Biology & Missense mutation. The author has an hindex of 14, co-authored 23 publications. Previous affiliations of Richard Chang include Children's Hospital of Orange County & Boston Children's Hospital.
Chat about Author
Papers
Mutations in TFAM, encoding mitochondrial transcription factor A, cause neonatal liver failure associated with mtDNA depletion
Ashlee R. Stiles,Mariella Simon,Alexander Stover,S. Eftekharian,Negar Khanlou,Hanlin L. Wang,Shino Magaki,Hane Lee,Kate Partynski,Nagmeh Dorrani,Richard Chang,Julian A. Martinez-Agosto,Jose E. Abdenur +12 more
TL;DR: A homozygous missense variant in TFAM is associated with a novel mtDNA depletion syndrome for the first time and functional investigations of the mitochondria revealed reduced basal respiration and spare respiratory capacity, decreased mtDNA copy number and markedly reduced nucleoids.
114
Mitochondrial complex III deficiency caused by a homozygous UQCRC2 mutation presenting with neonatal-onset recurrent metabolic decompensation.
Noriko Miyake,Shoji Yano,Chika Sakai,Hideyuki Hatakeyama,Yuichi Matsushima,Masaaki Shiina,Yoriko Watanabe,James A Bartley,Jose E. Abdenur,Raymond Y. Wang,Richard Chang,Yoshinori Tsurusaki,Hiroshi Doi,Mitsuko Nakashima,Hirotomo Saitsu,Kazuhiro Ogata,Yu-ichi Goto,Naomichi Matsumoto +17 more
TL;DR: This is the first described human disease caused by a core protein abnormality in mitochondrial CIII, and in vitro studies using fibroblasts from the index patient clearly indicated CIII deficiency, as well as impaired assembly of the supercomplex formed from complexes I, III, and IV.
90
The mitochondrial 13513G>A mutation is associated with Leigh disease phenotypes independent of complex I deficiency in muscle.
Ariel Brautbar,Jing Wang,Jose E. Abdenur,Richard Chang,Janet A. Thomas,Theresa A. Grebe,Cynthia Lim,Shao-Wen Weng,Brett H. Graham,Lee-Jun C. Wong +9 more
TL;DR: It is concluded that in any patient with Leigh or Leigh-like disease, testing for the 13513G>A mutation is clinically relevant and low mutant loads in blood or muscle may be considered pathogenic, in the presence of normal respiratory chain enzyme activities.
45
Widening of the Genetic and Clinical Spectrum of Lamb-Shaffer Syndrome, a Neurodevelopmental Disorder Due to SOX5 Haploinsufficiency
Ash Zawerton,Cyril Mignot,Ashley N. Sigafoos,Patrick R. Blackburn,Abdul Haseeb,Kirsty McWalter,Shoji Ichikawa,Caroline Nava,Boris Keren,Perrine Charles,Isabelle Marey,Anne-Claude Tabet,Jonathan Levy,Laurence Perrin,Andreas Hartmann,Gaetan Lesca,Caroline Schluth-Bolard,Pauline Monin,Sophie Dupuis-Girod,Maria J. Guillen Sacoto,Rhonda E. Schnur,Zehua Zhu,Alice Poisson,Salima El Chehadeh,Yves Alembik,Ange-Line Bruel,Daphné Lehalle,Sophie Nambot,Sebastien Moutton,Sylvie Odent,Sylvie Jaillard,Christèle Dubourg,Yvonne Hilhorst-Hofstee,Tina Barbaro-Dieber,Lucia Ortega,Elizabeth J. Bhoj,Diane Masser-Frye,Lynne M. Bird,Lynne M. Bird,Kristin Lindstrom,Keri Ramsey,Vinodh Narayanan,Emily Fassi,Marcia C. Willing,Trevor Cole,Claire G. Salter,Rhoda Akilapa,Anthony Vandersteen,Natalie Canham,Patrick Rump,Erica H. Gerkes,Jolien S. Klein Wassink-Ruiter,Emilia K. Bijlsma,Mariëtte J.V. Hoffer,Marcelo Vargas,Antonina Wojcik,Florian Cherik,Christine Francannet,Jill A. Rosenfeld,Keren Machol,Daryl A. Scott,Carlos A. Bacino,Xia Wang,Gary D. Clark,Marta Bertoli,Simon Zwolinski,Rhys H. Thomas,Rhys H. Thomas,Ela Akay,Richard Chang,Rebekah Bressi,Rossana Sanchez Russo,Myriam Srour,Laura Russell,Anne-Marie E. Goyette,Lucie Dupuis,Roberto Mendoza-Londono,Catherine Karimov,Maries Joseph,Mathilde Nizon,Benjamin Cogné,Alma Kuechler,Amélie Piton,Eric W. Klee,Véronique Lefebvre,Karl J. Clark,Christel Depienne,Christel Depienne,Christel Depienne +88 more
TL;DR: Evidence that SOX5 haploinsufficiency leads to variable degrees of intellectual disability, language delay, and other clinical features is consolidated and extended the clinical and genetic spectrum associated with LAMSHF.
29
D‐glyceric aciduria is caused by genetic deficiency of D‐glycerate kinase (GLYCTK)
Jörn Oliver Sass,Kathleen Fischer,Raymond Y. Wang,Ernst Christensen,Sabine Scholl-Bürgi,Richard Chang,Klaus Kapelari,Melanie Walter +7 more
TL;DR: Transient overexpression of the variant GLYCTK genes in HEK293 cells clearly showed loss of enzyme activity and immunoreactivity when compared to the reference enzyme and provided a noninvasive approach for further diagnostic workup and research.
28