Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human <i>SUN5</i> gene.

Shang, Yongliang; Yan, Jie; Tang, Wenhao; Liu, Chao; Xiao, Sai; Guo, Yueshuai; Yuan, Li; Chen, Liang; Jiang, Hui; Guo, Xuejiang; Qiao, Jie; Li, Wei

Mechanistic insights into acephalic spermatozoa syndrome-associated mutations in the human SUN5 gene.

Shang, Yongliang; Yan, Jie; Tang, Wenhao; Liu, Chao; Xiao, Sai; Guo, Yueshuai; Yuan, Li; Chen, Liang; Jiang, Hui; Guo, Xuejiang; Qiao, Jie; Li, Wei.

Afiliação

Shang Y; From the State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.
Yan J; the University of Chinese Academy of Sciences, Beijing 100049, China.
Tang W; the Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.
Liu C; the Beijing Key Laboratory of Reproductive Endocrinology and Assisted Reproductive Technology, Center for Reproductive Medicine, Department of Obstetrics and Gynecology, Peking University Third Hospital, Beijing 100191, China.
Xiao S; From the State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.
Guo Y; the University of Chinese Academy of Sciences, Beijing 100049, China.
Yuan L; From the State Key Laboratory of Stem Cell and Reproductive Biology, Institute of Zoology, Chinese Academy of Sciences, Beijing 100101, China.
Chen L; the University of Chinese Academy of Sciences, Beijing 100049, China.
Jiang H; the State Key Laboratory of Reproductive Medicine, Collaborative Innovation Center of Genetics and Development, Department of Histology and Embryology, Nanjing Medical University, Nanjing 21 0029, China.
Guo X; the Savaid School of Medicine, University of Chinese Academy of Sciences, Beijing 100049, China.
Qiao J; the Medical Center of Reproductive and Genetics, Peking University First Hospital, Beijing 100034, China, and.
Li W; the Department of Urology, Peking University Third Hospital, Beijing 100191, China.

J Biol Chem ; 293(7): 2395-2407, 2018 02 16.

Article em En | MEDLINE | ID: mdl-29298896

Assuntos

Proteínas de Membrana/genética; Proteínas/genética; Teratozoospermia/genética; Adulto; Animais; Proteínas Reguladoras de Apoptose; Proteínas de Choque Térmico HSP40/genética; Proteínas de Choque Térmico HSP40/metabolismo; Proteínas de Choque Térmico/genética; Proteínas de Choque Térmico/metabolismo; Humanos; Íntrons; Masculino; Proteínas de Membrana/metabolismo; Camundongos; Camundongos Knockout; Chaperonas Moleculares; Mutação Puntual; Ligação Proteica; Proteínas/metabolismo; Splicing de RNA; Espermatogênese; Espermatozoides/citologia; Espermatozoides/metabolismo; Teratozoospermia/metabolismo

Palavras-chave

DNAJB13; SUN5 mutation; acephalic spermatozoa syndrome; alternative splicing; fertilization; mutant; pathogenesis; pathology; protein folding; spermatogenesis; spermatozoa; splicing variant

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Texto completo: 1 Base de dados: MEDLINE Assunto principal: Proteínas / Teratozoospermia / Proteínas de Membrana Idioma: En Ano de publicação: 2018 Tipo de documento: Article País de afiliação: China

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