Eric S. Schmitt
Baylor College of Medicine
36 Papers
222 Citations
Eric S. Schmitt is an academic researcher from Baylor College of Medicine. The author has contributed to research in topics: Mitochondrial DNA & Biology. The author has an hindex of 20, co-authored 36 publications. Previous affiliations of Eric S. Schmitt include Baylor University.
Chat about Author
Papers
Molecular and clinical genetics of mitochondrial diseases due to POLG mutations
Lee-Jun C. Wong,Robert K. Naviaux,Nicola Brunetti-Pierri,Qing Zhang,Eric S. Schmitt,Cavatina K. Truong,Margherita Milone,Bruce H. Cohen,Beverly Wical,Jaya Ganesh,Alice Basinger,Barbara K. Burton,Kathryn J. Swoboda,Donald L. Gilbert,Adeline Vanderver,Russell P. Saneto,Bruno Maranda,Georgianne L. Arnold,Jose E. Abdenur,Paula J. Waters,William C. Copeland +20 more
TL;DR: In this article, the exons and flanking intron region from approximately 350 patients displaying a phenotype consistent with inherited mitochondrial disease and found informative mutations in 61 (17%) of them.
294
Clinical and molecular features of mitochondrial DNA depletion due to mutations in deoxyguanosine kinase.
David Dimmock,Qing Zhang,Carlo Dionisi-Vici,Rosalba Carrozzo,Joseph T. Shieh,Lin-Ya Tang,Cavatina K. Truong,Eric S. Schmitt,Mara Sifry-Platt,Simona Lucioli,Filippo M. Santorelli,Can Ficicioglu,M. Rodriguez,Klaas J. Wierenga,Gregory M. Enns,Nicola Longo,Mark H. Lipson,Hilary Vallance,William J. Craigen,Fernando Scaglia,L.-J. Wong +20 more
TL;DR: The presentation of one case with apparent viral hepatitis, without neurological disease, suggests that this disease should be considered in patients with infantile liver failure regardless of the presence of neurological features or apparent infectious etiology.
164
Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.
Sha Tang,Jing Wang,Ni-Chung Lee,Margherita Milone,Michelle C. Halberg,Eric S. Schmitt,William J. Craigen,Wei Zhang,Lee-Jun C. Wong +8 more
TL;DR: In this paper, the authors sequenced the exons and flanking intronic regions of the POLG gene from 2697 unrelated patients with clinical presentations suggestive of POLG deficiency.
156
Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.
Lee-Jun C. Wong,Nicola Brunetti-Pierri,Qing Zhang,Nada Yazigi,Kevin E. Bove,Beverly B. Dahms,Michelle Puchowicz,Ignacio Gonzalez-Gomez,Eric S. Schmitt,Cavatina K. Truong,Charles L. Hoppel,Ping Chieh Chou,Jing Wang,Erin E. Baldwin,Darius J. Adams,Nancy D. Leslie,Richard G. Boles,Douglas S. Kerr,William J. Craigen +18 more
TL;DR: It is proposed that mutations in the MPV17 gene be considered in the course of evaluating the molecular etiology for isolated, rapidly progressive infantile liver failure during infancy without notable neurologic dysfunction.
121
MPV17-associated hepatocerebral mitochondrial DNA depletion syndrome: New patients and novel mutations
Ayman W. El-Hattab,Fang yuan Li,Eric S. Schmitt,Shulin Na Zhang,William J. Craigen,Lee-Jun C. Wong +5 more
TL;DR: Localizing the mutations within the predicted MPV17 protein structure reveals clustering of mutations in the region of the putative protein kinase C phosphorylation site.
93