Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice.

Autor: Abigail R Moye, Nicola Bedoni, Jessica G Cunningham, Urikhan Sanzhaeva, Eric S Tucker, Peter Mathers, Virginie G Peter, Mathieu Quinodoz, Liliana P Paris, Luísa Coutinho-Santos, Pedro Camacho, Madeleine G Purcell, Abbie C Winkelmann, James A Foster, Elena N Pugacheva, Carlo Rivolta, Visvanathan Ramamurthy

Publikováno v: PLoS Genetics, Vol 15, Iss 8, p e1008315 (2019)

Cilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class of genetic disorders, known collectively as ciliopathies. Many strides have been made towar

Externí odkaz: https://doaj.org/article/480975d5e12444a18eb9f8d47c79cac6

Superresolution microscopy reveals photoreceptor-specific subciliary location and function of Cep290

Autor: Valencia L. Potter, Michael A. Robichaux, Abigail R. Moye, Theodore G. Wensel

Mutations in the cilium-associated protein CEP290 cause retinal degeneration as part of multi-organ syndromic ciliopathies or as retina-specific diseases. The precise location and the functional roles of CEP290 within cilia and, specifically, the con

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::e7610160d11d42ce60d9c1ee82261124
https://doi.org/10.1101/2020.10.28.357806

Knockout of mouse receptor accessory protein 6 leads to sperm function and morphology defects

Autor: Kaori Nozawa, Qingnan Liang, Rui Chen, Darius J Devlin, Smriti Agrawal Zaneveld, Xiao Han, Jacob Michael Harnish, Martin M. Matzuk, Abigail R. Moye

Publikováno v: Biol Reprod

Receptor accessory protein 6 (REEP6) is a member of the REEP/Ypt-interacting protein family that we recently identified as essential for normal endoplasmic reticulum homeostasis and protein trafficking in the retina of mice and humans. Interestingly,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::da50324f8c98d460ea918649dc277a9d
https://europepmc.org/articles/PMC7253788/

Mutations in ARL2BP, a protein required for ciliary microtubule structure, cause syndromic male infertility in humans and mice

Autor: Nicola Bedoni, Liliana P. Paris, Madeleine G. Purcell, James A. Foster, Virginie G. Peter, Abbie C. Winkelmann, Eric S. Tucker, Urikhan Sanzhaeva, Carlo Rivolta, Pedro Camacho, Mathieu Quinodoz, Jessica G. Cunningham, Abigail R. Moye, Luisa Coutinho-Santos, Visvanathan Ramamurthy, Peter H. Mathers, Elena N. Pugacheva

Publikováno v: Repositório Científico de Acesso Aberto de Portugal
Repositório Científico de Acesso Aberto de Portugal (RCAAP)
instacron:RCAAP
PLoS Genetics
PLoS Genetics, Vol 15, Iss 8, p e1008315 (2019)

Cilia are evolutionarily conserved hair-like structures with a wide spectrum of key biological roles, and their dysfunction has been linked to a growing class of genetic disorders, known collectively as ciliopathies. Many strides have been made towar

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::369abf430b957d8740aaf81c314a535c

ARL2BP, a protein linked to retinitis pigmentosa, is needed for normal photoreceptor cilia doublets and outer segment structure

Autor: Andrew F.X. Goldberg, Tanya L. Dilan, Abigail R. Moye, Ratnesh K. Singh, Victoria A. Kimler, Visvanathan Ramamurthy, Daniella Munezero, Thamaraiselvi Saravanan

Publikováno v: Molecular biology of the cell. 29(13)

The outer segment (OS) of photoreceptor cells is an elaboration of a primary cilium with organized stacks of membranous disks that contain the proteins needed for phototransduction and vision. Though ciliary formation and function has been well chara

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::05027a754fcab7718875efeb94875163
https://pubmed.ncbi.nlm.nih.gov/29718757