Early-Onset Retinopathy in Patients With Variants in <i>SLC6A6</i> Leading to Impaired Taurine Transport
Year: 2025
Type: article
Language: en
Topic: Aldose Reductase and Taurine
Authors and affiliations:
raw_author_name: Mukhtar Ullah
raw_affiliation_strings: Department of Ophthalmology, University of Basel, Basel, Switzerland
Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
raw_author_name: Atta Ur Rehman
raw_affiliation_strings: Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan
raw_author_name: Madhur Shetty
raw_affiliation_strings: Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks
raw_author_name: Michael D. Allen
raw_affiliation_strings: Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks
raw_author_name: Ehsan Ullah
raw_affiliation_strings: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
raw_author_name: Sabrina G. Signorini
raw_affiliation_strings: Developmental Neuro-Ophthalmology Unit, IRCCS Mondino Foundation, Pavia, Italy
raw_author_name: Cyril Burin des Roziers
raw_affiliation_strings: Laboratoire SeqOIA, Paris, France
Service de Médecine Génomique des Maladies de Système et d’Organe, Hôpital Cochin, Paris, France
raw_author_name: Rosalie M. Grijalva
raw_affiliation_strings: Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks
raw_author_name: Abdur Rashid
raw_affiliation_strings: Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland
raw_author_name: Asad Munir
raw_affiliation_strings: Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan
raw_author_name: Alessandra Pia Porretta
raw_affiliation_strings: CNMR Maladies Cardiaques Héréditaires Rares, APHP, Hôpital Bichat Claude-Bernard, Paris, France
Service de cardiologie, Département cœur-vaisseaux, Centre Hospitalier Universitaire Vaudois, Lausanne, Switzerland
raw_author_name: Enza Maria Valente
raw_affiliation_strings: Department of Molecular Medicine, University of Pavia, Pavia, Italy
Neurogenetics Research Center, IRCCS Mondino Foundation, Pavia, Italy
raw_author_name: Aime R. Agather
raw_affiliation_strings: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
raw_author_name: Ioannis Dimopoulos
raw_affiliation_strings: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
raw_author_name: Robert B. Hufnagel
raw_affiliation_strings: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
raw_author_name: Edouard Malandain
raw_affiliation_strings: Department of Ophthalmology, Rouen University Hospital and University of Rouen, Rouen, France
raw_author_name: Juliette Coursimault
raw_affiliation_strings: Department of Genetics and Reference Center for Developmental Disorders, University of Rouen Normandie, Inserm U1245, CHU Rouen, Rouen, France
raw_author_name: Muhammad Ansar
raw_affiliation_strings: Advanced Molecular Genetics and Genomics Disease Research and Treatment Centre, Dow University of Health Sciences, Sindh, Pakistan
Department of Ophthalmology, Jules Gonin Eye Hospital-Fondation Asile Des Aveugles and University of Lausanne, Lausanne, Switzerland
raw_author_name: Stylianos E. Antonarakis
raw_affiliation_strings: Department of Genetic Medicine and Development, University of Geneva, Geneva, Switzerland
raw_author_name: Andrea Superti-Furga
raw_affiliation_strings: Division of Genetic Medicine, University of Lausanne, Lausanne, Switzerland
raw_author_name: Sanaullah Jan
raw_affiliation_strings: Department of Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan
Pakistan Institute of Community Ophthalmology, Hayatabad Medical Complex, Peshawar, Khyber Pakhtunkhwa, Pakistan
raw_author_name: Brian P. Brooks
raw_affiliation_strings: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
raw_author_name: Giacomo Calzetti
raw_affiliation_strings: Department of Ophthalmology, University of Basel, Basel, Switzerland
Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
Vista Vision Eye Clinic, Brescia, Italy
raw_author_name: Bin Guan
raw_affiliation_strings: Ophthalmic Genetics and Visual Function Branch, National Eye Institute, National Institutes of Health, Bethesda, Maryland
raw_author_name: Mathieu Quinodoz
raw_affiliation_strings: Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom
Department of Ophthalmology, University of Basel, Basel, Switzerland
Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan
raw_author_name: L. Keith Henry
raw_affiliation_strings: Department of Biomedical Sciences, University of North Dakota School of Medicine and Health Sciences, Grand Forks
raw_author_name: Carlo Rivolta
raw_affiliation_strings: Department of Genetics, Genomics and Cancer Sciences, University of Leicester, Leicester, United Kingdom
Department of Ophthalmology, University of Basel, Basel, Switzerland
Institute of Molecular and Clinical Ophthalmology Basel, Basel, Switzerland
Department of Zoology, Faculty of Biological and Health Sciences, Hazara University, Mansehra, Pakistan