Open AccessA novel insertion mutation in atlastin 1 is associated with spastic quadriplegia, increased membrane tethering, and aberrant conformational switching
Author(s) -
Carolyn M. Kelly,
Peter J. Zeiger,
Vinodh Narayanan,
Keri Ramsey,
Holger Sondermann
Publication year - 2021
Publication title -
journal of biological chemistry
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 2.361
H-Index - 513
eISSN - 1067-8816
pISSN - 0021-9258
DOI - 10.1016/j.jbc.2021.101438
Subject(s) - hereditary spastic paraplegia , biology , gtpase , mutation , microbiology and biotechnology , tethering , genetics , gene , phenotype
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