Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.

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Title: Missense Variants in the Second Transmembrane Domain of TMEM17 Disrupt Its Stability and Function and Lead to a Wide Phenotypic Spectrum of Ciliopathies.
Authors: Boutaud L; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Li C; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Moncler C; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France., Verlin L; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France., Garfa-Traoré M; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France., Bourgon N; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Akbari D; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Porée J; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France., Serpieri V; Department of Molecular Medicine, University of Pavia, Pavia, Italy., Panza M; Cell Imaging Platform, INSERM-US24-CNRS UMS 3633 Structure Fédérative de Recherche Necker, Paris University, Paris, France., Haddad L; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Nitschké P; Imagine Institute, Bioinformatics Platform, INSERM UMR 1163, Université de Paris, Paris, France., Aziza J; Département de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France., Matt C; Seccion de Genética Médica del Centro de Educación Médica e Investigaciones Clínicas 'Norberto Quirno', CP (C1431FWO), Buenos Aires, Argentina., Valente EM; Department of Molecular Medicine, University of Pavia, Pavia, Italy.; Neurogenetics Research Center, IRCCS, Mondino Foundation, Pavia, Italy., Gargallo P; Seccion de Genética Médica del Centro de Educación Médica e Investigaciones Clínicas 'Norberto Quirno', CP (C1431FWO), Buenos Aires, Argentina., Dubucs C; Département de Pathologie, Institut Universitaire du Cancer Toulouse - Oncopole, Toulouse, France., Attié-Bitach T; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.; Service de Médecine Génomique des Maladies Rares, Hôpital Universitaire Necker-Enfants Malades, Paris, France., Leroux MR; Department of Molecular Biology and Biochemistry, Simon Fraser University, Burnaby, British Columbia, Canada.; Centre for Cell Biology, Development, and Disease, Simon Fraser University, Burnaby, British Columbia, Canada., Thomas S; INSERM UMR 1163, Institut Imagine, Université Paris Cité, Paris, France.
Source: Clinical genetics [Clin Genet] 2026 Feb; Vol. 109 (2), pp. 305-315. Date of Electronic Publication: 2025 Aug 21.
Publication Type: Journal Article
Journal Info: Publisher: Munksgaard Country of Publication: Denmark NLM ID: 0253664 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1399-0004 (Electronic) Linking ISSN: 00099163 NLM ISO Abbreviation: Clin Genet Subsets: MEDLINE
Database: MEDLINE Ultimate
Description
ISSN:1399-0004
DOI:10.1111/cge.70042