Biochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity-Reference-Cited by-同舟云学术

Biochemical Characterizations of Human TMPK Mutations Identified in Patients with Severe Microcephaly: Single Amino Acid Substitutions Impair Dimerization and Abolish Their Catalytic Activity

Published:2021-12-06 Issue:49 Volume:6 Page:33943-33952
ISSN:2470-1343
Container-title:ACS Omega
language:en
Short-container-title:ACS Omega

Author:

Frisk Junmei Hu¹,Vanoevelen Jo M.²,Bierau Jörgen²,Pejler Gunnar¹³,Eriksson Staffan¹,Wang Liya¹^ORCID

Affiliation:

1. Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, Uppsala SE-750 07, Sweden

2. Department of Clinical Genetics, Maastricht University Medical Centre+ and GROW School for Oncology and Developmental Biology, Maastricht 6202 AZ, The Netherlands

3. Department of Medical Biochemistry and Microbiology, Uppsala University, Uppsala SE-750 07, Sweden

Publisher

American Chemical Society (ACS)

Subject

General Chemical Engineering,General Chemistry

Link

https://pubs.acs.org/doi/pdf/10.1021/acsomega.1c05288

Reference28 articles.

1. Basic biochemical characterization of cytosolic enzymes in thymidine nucleotide synthesis in adult rat tissues: implications for tissue specific mitochondrial DNA depletion and deoxynucleoside-based therapy for TK2-deficiency

2. Deoxythymidylate kinase, DTYMK, is a novel gene for mitochondrial DNA depletion syndrome

3. Stabilization of Thymidylate Kinase Activity by Thymidylate and by Thymidine

4. Human thymidylate kinase. Purification, characterization, and kinetic behavior of the thymidylate kinase derived from chronic myelocytic leukemia.

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