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 A1 (PLA1) catalyzing phosphatidyl...

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Veröffentlicht in:	Bioscience reports 2021-02, Vol.41 (2)
Hauptverfasser:	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
Format:	Artikel
Sprache:	eng
Schlagworte:	Age Animals Antibodies CRISPR Gene deletion Gene expression Genes Genetic Diseases, Inborn - genetics Genetic Diseases, Inborn - physiopathology Hereditary spastic paraplegia Locomotion - physiology Mice Mice, Knockout Molecular Bases of Health & Disease Nervous system Omics Ontology Paralysis Paraplegia - genetics Paraplegia - physiopathology Paraplegics Pathogenesis Patients Phosphatidylinositol Phospholipase A1 Proteins Sensation & Movement Signal Transduction Translation termination
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