Novel defect in phosphatidylinositol 4‐kinase type 2‐alpha (PI4K2A) at the membrane‐enzyme interface is associated with metabolic cutis laxa

Autor: Mark G. Waugh, Alexander Hoischen, Zsolt Urban, Eva Morava, J. Paul Simons, Lock Hock Ngu, Hans Spelbrink, Hanka Venselaar, Ron A. Wevers, Sanne van Kraaij, Bert Callewaert, Ulrich Brandt, Thatjana Gardeitchik, Raya Al-Shawi, Miski Mohamed, Daisy Dalloyaux, Shanti Balasubramaniam, Johannes M. F. G. Aerts, Michele Frison, Sergio Guerrero-Castillo, Wouter W. Kallemeijn

Publikováno v: Journal of Inherited Metabolic Disease
Journal of Inherited Metabolic Disease, 43(6), 1382-1391. WILEY
JOURNAL OF INHERITED METABOLIC DISEASE
Journal of Inherited Metabolic Disease, 43, 1382-1391
Journal of Inherited Metabolic Disease, 43, 6, pp. 1382-1391

Inherited cutis laxa, or inelastic, sagging skin is a genetic condition of premature and generalised connective tissue ageing, affecting various elastic components of the extracellular matrix. Several cutis laxa syndromes are inborn errors of metabol

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::5136ef1221fe259e885e871cc639513c
http://europepmc.org/articles/PMC7687218

Inducible Expression in Human Cells, Purification, and In Vitro Assays for the Mitochondrial DNA Helicase Twinkle

Autor: Steffi Goffart, Hans Spelbrink

Publikováno v: Methods in Molecular Biology ISBN: 9781934115602

Mitochondrial DNA (mtDNA) maintenance can be and has been studied in a wide variety of organisms, some more tractable than others. We use human and mouse cell culture models to study proteins and mechanisms of mtDNA replication. Recent advances in ce

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::375b7dd25bb48ba8d1aafcfe51f62029
https://doi.org/10.1007/978-1-59745-521-3_7

The V368i mutation in Twinkle does not segregate with adPEO.

Autor: Joaquín Arenas, Egill Briem, Henrik Dahl, Wendy Hutchison, Sharon Lewis, Miguel A. Martin, Hans Spelbrink, Valeria Tiranti, Howy Jacobs, Massimo Zeviani

Publikováno v: Annals of Neurology; Feb2003, Vol. 53 Issue 2, p278-278, 1p

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