CEP41 is mutated in Joubert syndrome and is required for tubulin glutamylation at the cilium

Author

JI EUN LEE^{1 2} ; SILHAVY, Jennifer L^{1 2} ; SCHLOSSMAN, Andrew M^{1 2} ; MERRIMAN, Barry⁷ ; ATTIE-BITACH, Tania⁸ ; LOGAN, Clare V⁹ ; GLASS, Ian A^{10 11} ; CLUCKEY, Andrew¹² ; LOUIE, Carrie M^{1 2} ; JEONG HO LEE^{1 2} ; RAYNES, Hilary R^{13 14 15} ; RAPIN, Isabelle^{13 14 15} ; ZAKI, Maha S³ ; CASTROVIEJO, Ignacio P¹⁶ ; SETOU, Mitsutoshi⁶ ; BARBOT, Clara¹⁷ ; BOLTSHAUSER, Eugen¹⁸ ; NELSON, Stanley F⁷ ; HILDEBRANDT, Friedhelm¹² ; JOHNSON, Colin A⁹ ; ADOHERTY, Daniel^{10 11} ; VALENTE, Enzamaria^{19 4} ; GLEESON, Joseph G^{1 2} ; SCHROTH, Jana^{1 2} ; BIELAS, Stephanie L^{1 2} ; MARSH, Sarah E^{1 2} ; OLVERA, Jesus^{1 2} ; BRANCATI, Francesco^{4 5} ; IANNICELLI, Miriam⁴ ; IKEGAMI, Koji⁶
[1] Department of Neurosciences, Howard Hughes Medical Institute, University of California, San Diego, La Jolla, California, United States
[2] Neurogenetics Laboratory, Institute for Genomic Medicine, Department of Pediatrics, University of California, San Diego, La Jolla, California, United States
[3] Clinical Genetics Department, Human Genetics and Genome Research Division, National Research Centre, Dokki, Egypt
[4] Casa Sollievo della Sofferenza (CSS) Hospital, CSS-Mendel Laboratory, San Giovanni Rotondo, Italy
[5] Department of Biopathology and Diagnostic Imaging, Medical Genetics Unit, Tor Vergata University, Rome, Italy
[6] Department of Cell Biology and Anatomy, Hamamatsu University School of Medicine, Hamamatsu, Japan
[7] Department of Human Genetics, Pathology and Laboratory Medicine, David Geffen School of Medicine, University of California, Los Angeles, Los Angeles, California, United States
[8] Département de Génétique, Institut National de la Santé et de la Recherche Médicale (INSERM) U781, Hôpital Necker-Enfants Malades, Universlté Paris Descartes, Paris, France
[9] Section of Ophthalmology and Neurosciences, Leeds Institute of Molecular Medicine, St James's University Hospital, Leeds, United Kingdom
[10] Department of Pediatrics, Division of Developmental Medicine, University of Washington, Seattle Children's Hospital, Seattle, Washington, United States
[11] Division of Genetic Medicine, University of Washington, Seattle Children's Hospital, Seattle, Washington, United States
[12] Department of Pediatrics and Communicable Diseases, Howard Hughes Medical Institute, University of Michigan, Ann Arbor, Michigan, United States
[13] Saul R. Korey Department of Neurology, Albert Einstein College of Medicine, New York, New York, United States
[14] Department of Pediatrics, Albert Einstein College of Medicine, New York, New York, United States
[15] Rose F. Kennedy Intellectual and Developmental Disabilities Research Center, Albert Einstein College of Medicine, New York, New York, United States
[16] Pediatric Neurology Service, University Hospital La Paz, Madrid, Spain
[17] Serviço de Neuropediatria, Hospital de Crianças Maria Pia, Porto, Portugal
[18] Department of Pediatric Neurology, University Children's Hospital of Zurich, Zurich, Switzerland
[19] Department of Medical and Surgical Pediatric Sciences, University of Messina, Messina, Italy

Source

Nature genetics. 2012, Vol 44, Num 2, pp 193-199, 7 p ; ref : 37 ref

CODEN

NGENEC

ISSN

1061-4036

Scientific domain

Genetics

Publisher

Nature Publishing Group, New York, NY

Publication country

United States

Document type

Article

Language

English

Keyword (fr)

Cil Syndrome de Joubert Tubuline Maladie héréditaire Malformation Pathologie de l'encéphale Pathologie du système nerveux central Pathologie du système nerveux

Keyword (en)

Cilium Joubert syndrome Tubulin Genetic disease Malformation Cerebral disorder Central nervous system disease Nervous system diseases

Keyword (es)

Cilio Joubert síndrome Tubulina Enfermedad hereditaria Malformación Encéfalo patología Sistema nervosio central patología Sistema nervioso patología

Classification

Pascal

002 Biological and medical sciences / 002A Fundamental and applied biological sciences. Psychology / 002A07 Genetics of eukaryotes. Biological and molecular evolution

Pascal

002 Biological and medical sciences / 002B Medical sciences / 002B17 Neurology / 002B17D Malformations of the nervous system

Discipline

Eukaryotes genetics. Biological and molecular evolution Neurology

Origin

Inist-CNRS

Database

PASCAL

INIST identifier

25662256

Sauf mention contraire ci-dessus, le contenu de cette notice bibliographique peut être utilisé dans le cadre d’une licence CC BY 4.0 Inist-CNRS / Unless otherwise stated above, the content of this bibliographic record may be used under a CC BY 4.0 licence by Inist-CNRS / A menos que se haya señalado antes, el contenido de este registro bibliográfico puede ser utilizado al amparo de una licencia CC BY 4.0 Inist-CNRS