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

• Junmei Hu Frisk,
• Jo M. Vanoevelen,
• Jörgen Bierau,
• Gunnar Pejler,
• Staffan Eriksson,
• Liya Wang

Affiliations

Junmei Hu Frisk

Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, Uppsala, Sweden

Jo M. Vanoevelen

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

Jörgen Bierau

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

Gunnar Pejler

Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, Uppsala, Sweden

Staffan Eriksson

Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, Uppsala, Sweden

Liya Wang

Department of Anatomy, Physiology and Biochemistry, Swedish University of Agricultural Sciences, Uppsala, Sweden