Ddhd1 knockout mouse as a model of locomotive and physiological abnormality in familial spastic paraplegia

We have previously reported a novel homozygous 4-bp deletion in DDHD1 as the responsible variant for spastic paraplegia type 28 (SPG28; OMIM#609340). The variant causes a frameshift, resulting in a functionally null allele in the patient. DDHD1 encodes phospholipase A(1) (PLA(1)) catalyzing phosphat...

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Detalles Bibliográficos
Autores principales: Morikawa, Takuya, Ohishi, Hiroaki, Kosaka, Kengo, Shimojo, Tomofumi, Nagano, Akihiro, Taniguchi, Itsuki, Fujioka, Ryuta, Moriyama, Kosei, Unoki, Motoko, Takahashi, Masatomo, Nakao, Motonao, Izumi, Yoshihiro, Bamba, Takeshi, Sasaki, Hiroyuki, Miura, Shiroh, Shibata, Hiroki
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Portland Press Ltd. 2021
Materias:
Molecular Bases of Health & Disease
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7921290/
https://www.ncbi.nlm.nih.gov/pubmed/33600578
http://dx.doi.org/10.1042/BSR20204171

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