Zobrazeno 1 - 3
of 3
pro vyhledávání: '"Elena N. Makareeva"'
Autor:
Uschi Lindert, Wayne A. Cabral, Surasawadee Ausavarat, Siraprapa Tongkobpetch, Katja Ludin, Aileen M. Barnes, Patra Yeetong, Maryann Weis, Birgit Krabichler, Chalurmpon Srichomthong, Elena N. Makareeva, Andreas R. Janecke, Sergey Leikin, Benno Röthlisberger, Marianne Rohrbach, Ingo Kennerknecht, David R. Eyre, Kanya Suphapeetiporn, Cecilia Giunta, Joan C. Marini, Vorasuk Shotelersuk
Publikováno v:
Nature Communications, Vol 7, Iss 1, Pp 1-12 (2016)
Osteogenesis imperfecta (OI) is genetically linked to autosomal dominant or autosomal recessive mutations. Here, Marini et al. describe two families with X-chromosome-linked OI with mutations in MBTPS2 that alter regulated intramembrane proteolysis a
Externí odkaz:
https://doaj.org/article/a84048b3358e400b90b24ee8963af381
Autor:
Wayne A Cabral, Masaki Ishikawa, Matthias Garten, Elena N Makareeva, Brandi M Sargent, MaryAnn Weis, Aileen M Barnes, Emma A Webb, Nicholas J Shaw, Leena Ala-Kokko, Felicitas L Lacbawan, Wolfgang Högler, Sergey Leikin, Paul S Blank, Joshua Zimmerberg, David R Eyre, Yoshihiko Yamada, Joan C Marini
Publikováno v:
PLoS Genetics, Vol 12, Iss 7, p e1006156 (2016)
Recessive osteogenesis imperfecta (OI) is caused by defects in proteins involved in post-translational interactions with type I collagen. Recently, a novel form of moderately severe OI caused by null mutations in TMEM38B was identified. TMEM38B encod
Externí odkaz:
https://doaj.org/article/658422182509483ea7dca5eabb1f1822
Autor:
Wayne A Cabral, Irina Perdivara, MaryAnn Weis, Masahiko Terajima, Angela R Blissett, Weizhong Chang, Joseph E Perosky, Elena N Makareeva, Edward L Mertz, Sergey Leikin, Kenneth B Tomer, Kenneth M Kozloff, David R Eyre, Mitsuo Yamauchi, Joan C Marini
Publikováno v:
PLoS Genetics, Vol 10, Iss 6, p e1004465 (2014)
Cyclophilin B (CyPB), encoded by PPIB, is an ER-resident peptidyl-prolyl cis-trans isomerase (PPIase) that functions independently and as a component of the collagen prolyl 3-hydroxylation complex. CyPB is proposed to be the major PPIase catalyzing t
Externí odkaz:
https://doaj.org/article/ff8393fe2e554225a6fb156176fe0036