Biallelic UFM1 and UFC1 mutations expand the essential role of ufmylation in brain development.

Nahorski, Michael S; Maddirevula, Sateesh; Ishimura, Ryosuke; Alsahli, Saud; Brady, Angela F; Begemann, Anaïs; Mizushima, Tsunehiro; Guzmán-Vega, Francisco J; Obata, Miki; Ichimura, Yoshinobu; Alsaif, Hessa S; Anazi, Shams; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Monies, Dorota; Abouelhoda, Mohamed; Meyer, Brian F; Alfadhel, Majid; Eyaid, Wafa; Zweier, Markus; Steindl, Katharina; Rauch, Anita; Arold, Stefan T; Woods, C Geoffrey; Komatsu, Masaaki; Alkuraya, Fowzan S

Nahorski, Michael S; Maddirevula, Sateesh; Ishimura, Ryosuke; Alsahli, Saud; Brady, Angela F; Begemann, Anaïs; Mizushima, Tsunehiro; Guzmán-Vega, Francisco J; Obata, Miki; Ichimura, Yoshinobu; Alsaif, Hessa S; Anazi, Shams; Ibrahim, Niema; Abdulwahab, Firdous; Hashem, Mais; Monies, Dorota; Abouelhoda, Mohamed; Meyer, Brian F; Alfadhel, Majid; Eyaid, Wafa; Zweier, Markus; Steindl, Katharina; Rauch, Anita; Arold, Stefan T; Woods, C Geoffrey; Komatsu, Masaaki; Alkuraya, Fowzan S.

Affiliation

Nahorski MS; Cambridge Institute for Medical Research, Wellcome Trust MRC Building Addenbrookes Hospital, Hills Rd, Cambridge, UK.
Maddirevula S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Ishimura R; Department of Biochemistry, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata, Japan.
Alsahli S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Brady AF; North West Thames Genetics Service, Level 8V, St Mark's Hospital, Northwick Park Hospital Watford Road, Harrow, UK.
Begemann A; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
Mizushima T; Picobiology Institute, Graduate School of Life Science, University of Hyogo, Ako-gun, Hyogo, Japan.
Guzmán-Vega FJ; King Abdullah University of Science and Technology, Computational Bioscience Research Center, Division of Biological and Environmental Sciences and Engineering, Thuwal, Saudi Arabia.
Obata M; Department of Biochemistry, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata, Japan.
Ichimura Y; Department of Biochemistry, Niigata University Graduate School of Medical and Dental Sciences, Chuo-ku, Niigata, Japan.
Alsaif HS; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Anazi S; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Ibrahim N; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abdulwahab F; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Hashem M; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Monies D; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Abouelhoda M; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Meyer BF; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Alfadhel M; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Eyaid W; Department of Genetics, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Zweier M; Saudi Human Genome Program, King Abdulaziz City for Science and Technology, Riyadh, Saudi Arabia.
Steindl K; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabi
Rauch A; King Abdullah International Medical Research Centre, King Saud bin Abdulaziz University for Health Sciences, Division of Genetics, Department of Pediatrics, King Abdullah Specialized Children Hospital, King Abdulaziz Medical City, Ministry of National Guard-Health Affairs (NGHA), Riyadh, Saudi Arabi
Arold ST; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
Woods CG; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
Komatsu M; Institute of Medical Genetics, University of Zurich, 8952 Schlieren-Zurich, Switzerland.
Alkuraya FS; Neuroscience Center Zurich, University of Zurich and ETH Zurich, Zurich, Switzerland.

Brain ; 141(7): 1934-1945, 2018 07 01.

Article de En | MEDLINE | ID: mdl-29868776

Sujet(s)

Texte intégral

Ajouter à My VHL

Imprimer

XML

PubMed Links

Recherche sur Google

Texte intégral: 1 Collection: 01-internacional Base de données: MEDLINE Sujet principal: Encéphalopathies / Protéines / Ubiquitin-conjugating enzymes Type d'étude: Prognostic_studies Limites: Adolescent / Adult / Child / Child, preschool / Female / Humans / Male Langue: En Journal: Brain Année: 2018 Type de document: Article Pays d'affiliation: Royaume-Uni

Texte intégral

Ajouter à My VHL

Imprimer

XML

PubMed Links

Recherche sur Google