Point mutations in IMPDH2 which cause early-onset neurodevelopmental disorders disrupt enzyme regulation and filament structure.

O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Shaked, Hagar Mor; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M

O'Neill, Audrey G; Burrell, Anika L; Zech, Michael; Elpeleg, Orly; Harel, Tamar; Edvardson, Simon; Shaked, Hagar Mor; Rippert, Alyssa L; Nomakuchi, Tomoki; Izumi, Kosuke; Kollman, Justin M.

Afiliación

O'Neill AG; Department of Biochemistry, University of Washington, Seattle, WA, USA.
Burrell AL; Department of Biochemistry, University of Washington, Seattle, WA, USA.
Zech M; Institute of Neurogenomics, Helmholtz Zentrum München, 85764 Munich, Germany.
Elpeleg O; Institute of Human Genetics, School of Medicine, Technical University of Munich, 81675 Munich, Germany.
Harel T; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Edvardson S; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Shaked HM; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Rippert AL; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.
Nomakuchi T; Alyn Hospital, Hebrew University School of Medicine, Jerusalem, Israel.
Izumi K; Department of Genetics, Hadassah Medical Center, Jerusalem, Israel.
Kollman JM; Faculty of Medicine, Hebrew University of Jerusalem, Jerusalem, Israel.

bioRxiv ; 2023 Mar 15.

Article en En | MEDLINE | ID: mdl-36993700

Palabras clave

IMP dehydrogenase; allostery; cryo-EM; dystonia; enzyme filaments; neurodevelopment; nucleotide biosynthesis

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Texto completo: 1 Bases de datos: MEDLINE Idioma: En Revista: BioRxiv Año: 2023 Tipo del documento: Article País de afiliación: Estados Unidos