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A novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching.
Kelly, Carolyn M; Zeiger, Peter J; Narayanan, Vinodh; Ramsey, Keri; Sondermann, Holger.
Affiliation
  • Kelly CM; Department of Molecular Medicine, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA. Electronic address: cmk269@cornell.edu.
  • Zeiger PJ; Department of Molecular Medicine, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA.
  • Narayanan V; Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA.
  • Ramsey K; Center for Rare Childhood Disorders, Translational Genomics Research Institute (TGen), Phoenix, Arizona, USA. Electronic address: kramsey@tgen.org.
  • Sondermann H; Department of Molecular Medicine, College of Veterinary Medicine, Cornell University, Ithaca, New York, USA; CSSB Centre for Structural Systems Biology, Deutsches Elektronen-Synchrotron DESY, Hamburg, Germany; CSSB Centre for Structural Systems Biology, Christian-Albrechts-Universität zu Kiel, Kiel,
J Biol Chem ; 298(1): 101438, 2022 01.
Article in En | MEDLINE | ID: mdl-34808209
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / GTP-Binding Proteins / Membrane Proteins / Mutation Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Biol Chem Year: 2022 Type: Article
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Full text: 1 Collection: 01-internacional Database: MEDLINE Main subject: Spastic Paraplegia, Hereditary / GTP-Binding Proteins / Membrane Proteins / Mutation Type of study: Risk_factors_studies Limits: Humans Language: En Journal: J Biol Chem Year: 2022 Type: Article