CIAO1 and MMS19 de fi ciency: A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

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CIAO1 and MMS19 de fi ciency : A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

van Karnebeek, Clara D. M. (författare): Univ Amsterdam, Emma Ctr Personalized Med, Dept Pediat, Amsterdam UMC Locat, Amsterdam, Netherlands.;Univ Amsterdam, Emma Ctr Personalized Med, Dept Human Genet, Amsterdam UMC locat, Amsterdam, Netherlands.;Amsterdam UMC, Emma Ctr Personalized Med, Amsterdam, Netherlands.;Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Med Genet, Vancouver, BC, Canada.;Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Pediat, Vancouver, BC, Canada.;United Metab Dis, Amsterdam, Netherlands.;Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands.

Tarailo-Graovac, Maja (författare): Univ Calgary, Cumming Sch Med, Dept Med Genet, Alberta Childrens Hosp Res Inst ACHRI, Calgary, AB, Canada.;Univ Calgary, Alberta Childrens Hosp Res Inst ACHRI, Cumming Sch Med, Dept Biochem & Mol Biol, Calgary, AB, Canada.

Leen, Rene (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands.

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Meinsma, Rutger (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.

Correard, Solenne (författare): Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Med Genet, Vancouver, BC, Canada.;Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Pediat, Vancouver, BC, Canada.

Jansen-Meijer, Judith (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.

Prykhozhij, Sergey V. (författare): Univ Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada.

Pena, Izabella A. (författare): MIT, Picower Inst Learning & Memory, Boston, MA USA.

Ban, Kevin (författare): Univ Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada.

Schock, Sarah (författare): Univ Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada.

Saxena, Vishal (författare): Univ Ottawa, Dept Biol, Ottawa, ON, Canada.

Pras-Raves, Mia L. (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands.

Drogemoller, Britt I. (författare): Univ Manitoba, Childrens Hosp Res Inst Manitoba, Dept Biochem & Med Genet, Rady Fac Hlth Sci, Winnipeg, MB, Canada.

Grootemaat, Anita E. (författare): Univ Amsterdam, Dept Med Biol, Amsterdam UMC Locat, Amsterdam, Netherlands.

van der Wel, Nicole N. (författare): Univ Amsterdam, Dept Med Biol, Amsterdam UMC Locat, Amsterdam, Netherlands.

Dobritzsch, Doreen, 1972- (författare): Uppsala universitet,Biokemi

Roseboom, Winfried (författare): Univ Amsterdam, Swammerdam Inst Life Sci, Lab Mass Spectrometry Biomol, Amsterdam, Netherlands.

Schomakers, Bauke V. (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands.

Jaspers, Yorrick R. J. (författare): Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands.;Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.

Zoetekouw, Lida (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.

Roelofsen, Jeroen (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.

Ferreira, Carlos R. (författare): NHGRI, NIH, Bethesda, MD USA.

van der Lee, Robin (författare): Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Pediat, Vancouver, BC, Canada.

Ross, Colin J. (författare): Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Med Genet, Vancouver, BC, Canada.;Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Pediat, Vancouver, BC, Canada.

Kochan, Jakub (författare): Jagiellonian Univ, Dept Cell Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland.

McIntyre, Rebecca L. (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.

van Klinken, Jan B. (författare): Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands.;Leiden Univ, Med Ctr, Dept Human Genet, Leiden, Netherlands.

van Weeghel, Michel (författare): Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands.;Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands.

Kramer, Gertjan (författare): Univ Amsterdam, Swammerdam Inst Life Sci, Lab Mass Spectrometry Biomol, Amsterdam, Netherlands.

Weschke, Bernhard (författare): Charite Univ Med Berlin, Dept Neuropediat, Berlin, Germany.

Labrune, Philippe (författare): Univ Paris Saclay, SMUR Pediat & Reanimat Neonatale 92, Hop Antoine Beclere, Ctr Reference Malad Hereditaires Metab Hepat,Ser, Clamart, France.;Paris Saclay Univ, Clamart, France.;INSERM, U1195, Clamart, France.

Willemsen, Michel A. (författare): Radboud Univ Nijmegen, Med Ctr, Dept Pediat Neurol, Nijmegen, Netherlands.;Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands.

Riva, Daria (författare): Fdn IRCCS Ist Neurol Carlo Besta, Neurogenet Syndromes & Autism Spectrum Disorders, Milan, Italy.

Garavaglia, Barbara (författare): Fdn IRCCS Ist Neurol Carlo Besta, Med Genet & Neurogenet Unit, Milan, Italy.

Moeschler, John B. (författare): Dartmouth Coll, Geisel Sch Med, Lebanon, NH USA.;Childrens Hosp Dartmouth, Dept Pediat, Lebanon, NH USA.

Filiano, James J. (författare): Dartmouth Coll, Geisel Sch Med, Lebanon, NH USA.;Childrens Hosp Dartmouth, Dept Pediat, Lebanon, NH USA.

Ekker, Marc (författare): Univ Ottawa, Dept Biol, Ottawa, ON, Canada.

Berman, Jason N. (författare): Univ Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada.

Dyment, David (författare): Univ Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada.

Vaz, Frederic M. (författare): Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands.;Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands.

Wassermann, Wyeth W. (författare): Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Med Genet, Vancouver, BC, Canada.;Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Pediat, Vancouver, BC, Canada.

Houtkooper, Riekelt H. (författare): Amsterdam UMC, Emma Ctr Personalized Med, Amsterdam, Netherlands.;Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands.;Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.

van Kuilenburg, Andre B. P. (författare): Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands.;Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.

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Univ Amsterdam, Emma Ctr Personalized Med, Dept Pediat, Amsterdam UMC Locat, Amsterdam, Netherlands;Univ Amsterdam, Emma Ctr Personalized Med, Dept Human Genet, Amsterdam UMC locat, Amsterdam, Netherlands.;Amsterdam UMC, Emma Ctr Personalized Med, Amsterdam, Netherlands.;Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Med Genet, Vancouver, BC, Canada.;Univ British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Pediat, Vancouver, BC, Canada.;United Metab Dis, Amsterdam, Netherlands.;Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands. Univ Calgary, Cumming Sch Med, Dept Med Genet, Alberta Childrens Hosp Res Inst ACHRI, Calgary, AB, Canada.;Univ Calgary, Alberta Childrens Hosp Res Inst ACHRI, Cumming Sch Med, Dept Biochem & Mol Biol, Calgary, AB, Canada. (creator_code:org_t)

Elsevier, 2024
2024
Engelska.
Ingår i: Genetics in Medicine. - : Elsevier. - 1098-3600 .- 1530-0366. ; 26:6

Relaterad länk:: https://doi.org/10.1...; visa fler...; https://uu.diva-port... (primary) (Raw object); https://urn.kb.se/re...; https://doi.org/10.1...; visa färre...

Tidskriftsartikel (refereegranskat)

Abstract Ämnesord

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Purpose: 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 2 inherited disorders of the cytosolic iron-sulfur protein assembly system.Methods: Genetic testing via genome sequencing was applied to identify the underlying disease cause in 3 patients with microcephaly, congenital brain malformations, progressive developmental and neurologic impairments, recurrent infections, and a fatal outcome. Studies in patient-derived skin fibroblasts and zebrafish models were performed to investigate the biochemical and cellular consequences.Results: Metabolic analysis showed elevated uracil and thymine levels in body fluids but no pathogenic variants in DPYD, encoding dihydropyrimidine dehydrogenase. Genome sequencing identified compound heterozygosity in 2 patients for missense variants in CIAO1, encoding cytosolic iron-sulfur assembly component 1, and homozygosity for an in-frame 3-nucleotide deletion in MMS19, encoding the MMS19 homolog, cytosolic iron-sulfur assembly component, in the third patient. Profound alterations in the proteome, metabolome, and lipidome were observed in patient-derived fibroblasts. We confirmed the detrimental effect of deficiencies in CIAO1 and MMS19 in zebrafish models.Conclusion: A general failure of cytosolic and nuclear iron-sulfur protein maturation caused pleiotropic effects. The critical function of the cytosolic iron-sulfur protein assembly machinery for antiviral host defense may well explain the recurrent severe infections occurring in our patients. (c) 2024 The Authors. Published by Elsevier Inc. on behalf of American College of Medical Genetics and Genomics. This is an open access article under the CC BY license (http://creativecommons.org/licenses/by/4.0/).

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Av författaren/redakt...: van Karnebeek, C ...; Tarailo-Graovac, ...; Leen, Rene; Meinsma, Rutger; Correard, Solenn ...; Jansen-Meijer, J ...; visa fler...; Prykhozhij, Serg ...; Pena, Izabella A ...; Ban, Kevin; Schock, Sarah; Saxena, Vishal; Pras-Raves, Mia ...; Drogemoller, Bri ...; Grootemaat, Anit ...; van der Wel, Nic ...; Dobritzsch, Dore ...; Roseboom, Winfri ...; Schomakers, Bauk ...; Jaspers, Yorrick ...; Zoetekouw, Lida; Roelofsen, Jeroe ...; Ferreira, Carlos ...; van der Lee, Rob ...; Ross, Colin J.; Kochan, Jakub; McIntyre, Rebecc ...; van Klinken, Jan ...; van Weeghel, Mic ...; Kramer, Gertjan; Weschke, Bernhar ...; Labrune, Philipp ...; Willemsen, Miche ...; Riva, Daria; Garavaglia, Barb ...; Moeschler, John ...; Filiano, James J ...; Ekker, Marc; Berman, Jason N.; Dyment, David; Vaz, Frederic M.; Wassermann, Wyet ...; Houtkooper, Riek ...; van Kuilenburg, ...; visa färre...

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CIAO1 and MMS19 de fi ciency : A lethal neurodegenerative phenotype caused by cytosolic Fe-S cluster protein assembly disorders

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