CIAO1and MMS19deficiency: a lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

Authors :: van Karnebeek, Clara D.M.
Tarailo-Graovac, Maja
Leen, René
Meinsma, Rutger
Correard, Solenne
Jansen-Meijer, Judith
Prykhozhij, Sergey V.
Pena, Izabella A.
Ban, Kevin
Schock, Sarah
Saxena, Vishal
Pras-Raves, Mia L.
Drögemöller, Britt I.
Grootemaat, Anita E.
van der Wel, Nicole N.
Dobritzsch, Doreen
Roseboom, Winfried
Schomakers, Bauke V.
Jaspers, Yorrick R.J.
Zoetekouw, Lida
Roelofsen, Jeroen
Ferreira, Carlos R.
van der Lee, Robin
Ross, Colin J.
Kochan, Jakub
McIntyre, Rebecca L.
van Klinken, Jan B.
van Weeghel, Michel
Kramer, Gertjan
Weschke, Bernhard
Labrune, Philippe
Willemsen, Michèl A.
Riva, Daria
Garavaglia, Barbara
Moeschler, John B.
Filiano, James J.
Ekker, Marc
Berman, Jason N.
Dyment, David
Vaz, Frédéric M.
Wassermann, Wyeth W.
Houtkooper, Riekelt H.
van Kuilenburg, André B.P.
Source :: Genetics in Medicine; 20240101, Issue: Preprints
Publication Year :: 2024
Abstract: The functionality of many cellular proteins depends on cofactors, yet they have only been implicated in a minority of Mendelian diseases. Here, we describe the first two inherited disorders of the cytosolic iron-sulfur protein assembly system

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