Article
Functional validation of novel variants in B4GALNT1 associated with early-onset complex hereditary spastic paraplegia with impaired ganglioside synthesis.
American journal of medical genetics. Part A - 1 Sept 2022
Alecu Julian Emanuel, Ohmi Yuhsuke, Bhuiyan Robiul H, Inamori Kei-Ichiro, Nitta Takahiro, Saffari Afshin, Jumo Hellen, Ziegler Marvin, de Gusmao Claudio Melo, Sharma Nutan, Ohno Shiho, Manabe Noriyoshi, Yamaguchi Yoshiki, Kambe Mariko, Furukawa Keiko, Sahin Mustafa, Inokuchi Jin-Ichi, Furakawa Koichi, Ebrahimi-Fakhari Darius
Abstract excerpt
Childhood-onset forms of hereditary spastic paraplegia are ultra-rare diseases and often present with complex features. Next-generation-sequencing allows for an accurate diagnosis in many cases but the interpretation of novel variants remains challenging, particularly for missense mutations. Where sufficient knowledge of the protein function and/or downstream pathways exists, functional studies in patient-derived...
Read the complete abstract on PubMedTopics
Share this publication in a Topic to start or enrich a Post.