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A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.

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Title: A Novel SIL1 Variant (p.E342K) Associated with Marinesco-Sjögren Syndrome Impairs Protein Stability and Function.
Authors: Ruggieri AG; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Marinakis NM; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece.; Laboratory of Genetics, Department of Medicine, Democritus University of Thrace, 681 00 Alexandroupolis, Greece., Amodei L; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Potenza F; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Kampouraki A; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece., Tilemis FN; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece., Pietrangelo L; Department of Medicine and Aging Sciences, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Viele M; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Di Marco F; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Del Boccio P; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Department of Sciences, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Di Cintio F; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Department of Medical, Oral and Biotechnological Sciences, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Selenti N; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece., Valari M; Department of Dermatology, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece., Federici L; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Miele AE; Department of Biochemical Sciences, Sapienza University of Rome, 00185 Rome, Italy.; Institute of Analytical Sciences, UMR 5280 ISA CNRS UCBL, Université Claude Bernard Lyon 1, 69100 Villeurbanne, France., Sallese M; Department of Innovative Technologies in Medicine and Dentistry, 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy.; Center for Advanced Studies and Technology (CAST), 'G. d'Annunzio' University of Chieti-Pescara, 66100 Chieti, Italy., Makrythanasis P; Laboratory of Medical Genetics, Medical School, St. Sophia's Children's Hospital, National and Kapodistrian University of Athens, 115 27 Athens, Greece.
Source: International journal of molecular sciences [Int J Mol Sci] 2025 Nov 22; Vol. 26 (23). Date of Electronic Publication: 2025 Nov 22.
Publication Type: Journal Article; Case Reports
Journal Info: Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067 (Electronic) Linking ISSN: 14220067 NLM ISO Abbreviation: Int J Mol Sci Subsets: MEDLINE
Database: MEDLINE Ultimate
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ISSN:1422-0067
DOI:10.3390/ijms262311310