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Sökning: WFRF:(Willemsen Marc) > CIAO1 and MMS19 de ...

  • van Karnebeek, Clara D. M.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. (författare)

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

  • Artikel/kapitelEngelska2024

Förlag, utgivningsår, omfång ...

  • Elsevier,2024
  • electronicrdacarrier

Nummerbeteckningar

  • LIBRIS-ID:oai:DiVA.org:uu-531109
  • https://urn.kb.se/resolve?urn=urn:nbn:se:uu:diva-531109URI
  • https://doi.org/10.1016/j.gim.2024.101104DOI

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  • Språk:engelska
  • Sammanfattning på:engelska

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Klassifikation

  • Ämneskategori:ref swepub-contenttype
  • Ämneskategori:art swepub-publicationtype

Anmärkningar

  • 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/).

Ämnesord och genrebeteckningar

Biuppslag (personer, institutioner, konferenser, titlar ...)

  • Tarailo-Graovac, MajaUniv 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. (författare)
  • Leen, ReneUniv Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands. (författare)
  • Meinsma, RutgerUniv Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands. (författare)
  • Correard, SolenneUniv 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. (författare)
  • Jansen-Meijer, JudithUniv Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands. (författare)
  • Prykhozhij, Sergey V.Univ Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada. (författare)
  • Pena, Izabella A.MIT, Picower Inst Learning & Memory, Boston, MA USA. (författare)
  • Ban, KevinUniv Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada. (författare)
  • Schock, SarahUniv Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada. (författare)
  • Saxena, VishalUniv Ottawa, Dept Biol, Ottawa, ON, Canada. (författare)
  • Pras-Raves, Mia L.Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands. (författare)
  • Drogemoller, Britt I.Univ Manitoba, Childrens Hosp Res Inst Manitoba, Dept Biochem & Med Genet, Rady Fac Hlth Sci, Winnipeg, MB, Canada. (författare)
  • Grootemaat, Anita E.Univ Amsterdam, Dept Med Biol, Amsterdam UMC Locat, Amsterdam, Netherlands. (författare)
  • van der Wel, Nicole N.Univ Amsterdam, Dept Med Biol, Amsterdam UMC Locat, Amsterdam, Netherlands. (författare)
  • Dobritzsch, Doreen,1972-Uppsala universitet,Biokemi(Swepub:uu)dordo526 (författare)
  • Roseboom, WinfriedUniv Amsterdam, Swammerdam Inst Life Sci, Lab Mass Spectrometry Biomol, Amsterdam, Netherlands. (författare)
  • Schomakers, Bauke V.Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands.;Amsterdam UMC, Core Facil Metab, Amsterdam, Netherlands. (författare)
  • Jaspers, Yorrick R. J.Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands.;Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands. (författare)
  • Zoetekouw, LidaUniv Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands. (författare)
  • Roelofsen, JeroenUniv Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands. (författare)
  • Ferreira, Carlos R.NHGRI, NIH, Bethesda, MD USA. (författare)
  • van der Lee, RobinUniv British Columbia, BC Childrens Hosp Res Inst, Fac Pharmaceut Sci, Ctr Mol Med & Therapeut,Dept Pediat, Vancouver, BC, Canada. (författare)
  • Ross, Colin J.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. (författare)
  • Kochan, JakubJagiellonian Univ, Dept Cell Biochem, Fac Biochem Biophys & Biotechnol, Krakow, Poland. (författare)
  • McIntyre, Rebecca L.Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands. (författare)
  • van Klinken, Jan B.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. (författare)
  • van Weeghel, MichelAmsterdam 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. (författare)
  • Kramer, GertjanUniv Amsterdam, Swammerdam Inst Life Sci, Lab Mass Spectrometry Biomol, Amsterdam, Netherlands. (författare)
  • Weschke, BernhardCharite Univ Med Berlin, Dept Neuropediat, Berlin, Germany. (författare)
  • Labrune, PhilippeUniv 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. (författare)
  • Willemsen, Michel A.Radboud Univ Nijmegen, Med Ctr, Dept Pediat Neurol, Nijmegen, Netherlands.;Radboud Univ Nijmegen, Med Ctr, Donders Inst Brain Cognit & Behav, Nijmegen, Netherlands. (författare)
  • Riva, DariaFdn IRCCS Ist Neurol Carlo Besta, Neurogenet Syndromes & Autism Spectrum Disorders, Milan, Italy. (författare)
  • Garavaglia, BarbaraFdn IRCCS Ist Neurol Carlo Besta, Med Genet & Neurogenet Unit, Milan, Italy. (författare)
  • Moeschler, John B.Dartmouth Coll, Geisel Sch Med, Lebanon, NH USA.;Childrens Hosp Dartmouth, Dept Pediat, Lebanon, NH USA. (författare)
  • Filiano, James J.Dartmouth Coll, Geisel Sch Med, Lebanon, NH USA.;Childrens Hosp Dartmouth, Dept Pediat, Lebanon, NH USA. (författare)
  • Ekker, MarcUniv Ottawa, Dept Biol, Ottawa, ON, Canada. (författare)
  • Berman, Jason N.Univ Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada. (författare)
  • Dyment, DavidUniv Ottawa, Fac Med, CHEO Res Inst, Ottawa, ON, Canada. (författare)
  • Vaz, Frederic M.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. (författare)
  • Wassermann, Wyeth W.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. (författare)
  • Houtkooper, Riekelt H.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. (författare)
  • van Kuilenburg, Andre B. P.Amsterdam Gastroenterol Endocrinol & Metab, Amsterdam, Netherlands.;Univ Amsterdam, Lab Genet Metab Dis, Amsterdam UMC Locat, Dept Clin Chem, Amsterdam, Netherlands. (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.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)

Sammanhörande titlar

  • Ingår i:Genetics in Medicine: Elsevier26:61098-36001530-0366

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