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Human CFEOM1 mutations attenuate KIF21A autoinhibition and cause oculomotor axon stalling.
Cheng, Long; Desai, Jigar; Miranda, Carlos J; Duncan, Jeremy S; Qiu, Weihong; Nugent, Alicia A; Kolpak, Adrianne L; Wu, Carrie C; Drokhlyansky, Eugene; Delisle, Michelle M; Chan, Wai-Man; Wei, Yan; Propst, Friedrich; Reck-Peterson, Samara L; Fritzsch, Bernd; Engle, Elizabeth C.
Afiliação
  • Cheng L; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Program in Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Desai J; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Program in Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Miranda CJ; Program in Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Duncan JS; Department of Biology, University of Iowa, College of Liberal Arts and Sciences, Iowa City, IA, 52242, USA.
  • Qiu W; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
  • Nugent AA; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Program in Neuroscience, Harvard Medical School, Boston, MA 02115, USA.
  • Kolpak AL; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA.
  • Wu CC; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
  • Drokhlyansky E; Program in Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Delisle MM; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Program in Genomics, Boston Children's Hospital, Boston, MA 02115, USA.
  • Chan WM; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Program in Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Neurology, Harvard Medical School, Boston, MA 02115, USA;
  • Wei Y; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA.
  • Propst F; Max F. Perutz Laboratories, University of Vienna, Department of Biochemistry and Cell Biology, Dr. Bohrgasse 9, A-1030 Vienna, Austria.
  • Reck-Peterson SL; Department of Cell Biology, Harvard Medical School, Boston, MA 02115, USA.
  • Fritzsch B; Department of Biology, University of Iowa, College of Liberal Arts and Sciences, Iowa City, IA, 52242, USA.
  • Engle EC; Department of Neurology, Boston Children's Hospital, Boston, MA 02115, USA; FM Kirby Neurobiology Center, Boston Children's Hospital, Boston, MA 02115, USA; Program in Genomics, Boston Children's Hospital, Boston, MA 02115, USA; Department of Medicine (Genetics), Boston Children's Hospital, Boston,
Neuron ; 82(2): 334-49, 2014 Apr 16.
Article em En | MEDLINE | ID: mdl-24656932
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Axônios / Fibrose / Oftalmopatias Hereditárias / Transtornos da Motilidade Ocular / Cinesinas / Mutação / Nervo Oculomotor Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Neuron Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos
Texto completo
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Texto completo: 1 Coleções: 01-internacional Base de dados: MEDLINE Assunto principal: Axônios / Fibrose / Oftalmopatias Hereditárias / Transtornos da Motilidade Ocular / Cinesinas / Mutação / Nervo Oculomotor Tipo de estudo: Prognostic_studies Limite: Animals / Humans Idioma: En Revista: Neuron Assunto da revista: NEUROLOGIA Ano de publicação: 2014 Tipo de documento: Article País de afiliação: Estados Unidos País de publicação: Estados Unidos