Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency

Clinical, biochemical, and genetic spectrum of seven new patients with NFU1 deficiency

Disorders of the mitochondrial energy metabolism are clinically and genetically heterogeneous. An increasingly recognized subgroup is caused by defective mitochondrial iron-sulfur (Fe-S) cluster biosynthesis, with defects in 13 genes being linked to human disease to date. Mutations in three of them,...

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Bibliographic Details
Main Authors: Uwe eAhting, Johannes A Mayr, Arnaud V Vanlander, Steven A Hardy, Saikat eSantra, Christine eMakowski, Charlotte L Alston, Franz A Zimmermann, Lucia eAbela, Barbara ePlecko, Marianne eRohrbach, Stephanie eSpranger, Sara eSeneka, Boris eRolinski, Angela eHagendorff, Maja eHempel, Wolfgang eSperl, Thomas eMeitinger, Joél eSmet, Robert W Taylor, Rudy eVan Coster, Peter eFreisinger, Holger eProkisch, Tobias Bernd Haack
Format: Article
Language:English
Published: Frontiers Media S.A. 2015-04-01
Series:Frontiers in Genetics
Subjects:
iron-sulfur cluster
pulmonary hypertension
mitochondrial respiratory chain
Lipoic acid
NFU1
Online Access:http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00123/full

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http://journal.frontiersin.org/Journal/10.3389/fgene.2015.00123/full

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