Work

Mild reduction of plasmalogens causes rhizomelic chondrodysplasia punctata: functional characterization of a novel mutation

Year: 2014

Type: article

Source: Journal of Human Genetics

DOI: 10.1038/jhg.2014.39

Authors: Masafumi Noguchi, Masanori Honsho, Yuichi Abe, Ryusuke Toyama, Hajime Niwa, Yoshiteru Sato, Kamran Ghaedi, Ali Rahmanifar, Yousef Shafeghati, Yukio Fujiki

Institutions: Kyushu University, Royan Institute, University of Isfahan, Sarem Cell Research Center, University of Social Welfare and Rehabilitation Sciences

Language: English

Topic: Metabolism and Genetic Disorders

Subfield: Clinical Biochemistry

Field: Biochemistry, Genetics and Molecular Biology

Domain: Life Sciences

SDG: Good health and well-being

Open Access status: closed

Funders: Japan Foundation for Applied Enzymology, Ministry of Education, Culture, Sports, Science and Technology, Japan Society for the Promotion of Science, Japan Science and Technology Agency, Core Research for Evolutional Science and Technology

Awards: G1829327494, G1829663811, G2244858985, Regulation of peroxisome biogenesis by protein phosphorylation and signal transduction, G2521286739, Structural study of the peroxisomal membrane protein specific transport sysmem in the peroxisome biogenesis, Novel functions of plasmalogens at the cell-cell contact site, G5995893604, Pathogenic mechanism of peroxisome biogenesis disorder, G6718509927, G6957637432, Regulation of plasmalogen synthesis and establishment of plasmalogen diversity, G7385371508, G7879866177, Structure and Function of Peroxins Essential for Peroxisome Assembly, G8678165634

OpenAlex ID: W2026539650

FWCI: 0.648

Cites: 24

Cited by: 10

Related to: 10