Synapse associated protein 102 (SAP102) binds the C-terminal part of the scaffolding protein neurobeachin.

Autor: Juliane Lauks, Patricia Klemmer, Fatima Farzana, Ramesh Karupothula, Robbert Zalm, Nancy E Cooke, Ka Wan Li, August B Smit, Ruud Toonen, Matthijs Verhage

Publikováno v: PLoS ONE, Vol 7, Iss 6, p e39420 (2012)

Neurobeachin (Nbea) is a multidomain scaffold protein abundant in the brain, where it is highly expressed during development. Nbea-null mice have severe defects in neuromuscular synaptic transmission resulting in lethal paralysis of the newborns. Rec

Externí odkaz: https://doaj.org/article/0ad1219ee7ac4e6a8531c41d5498cbea

Functional characterization of a humanPOU1F1mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD

Autor: Bruno Copin, Marie-Laure Sobrier, Bruno Leheup, Philippe Duquesnoy, Alfredo Penzo, Ben Z. Stanger, Stephen A. Liebhaber, Christelle Perez, Daria Sizova, Serge Amselem, Tahar Bouceba, Nancy E. Cooke, Yu-Cheng Tsai

Publikováno v: Human Molecular Genetics
Human Molecular Genetics, 2016, 25 (3), pp.472-483. ⟨10.1093/hmg/ddv486⟩
Human Molecular Genetics, Oxford University Press (OUP), 2016, 25 (3), pp.472-483. ⟨10.1093/hmg/ddv486⟩

International audience; POU1F1, a pituitary-specific POU-homeo domain transcription factor, plays an essential role in the specification of the somatotroph, lactotroph and thyrotroph lineages and in the activation of GH1, PRL and TSHβ transcription.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ca80e74801025c697cf43458bd275140
https://doi.org/10.1093/hmg/ddv486

Autonomous actions of the human growth hormone long-range enhancer

Autor: Nancy E. Cooke, Stephen A. Liebhaber, Eung Jae Yoo, Yu-Cheng Tsai, Christopher D. Brown

Publikováno v: Nucleic Acids Research

The human growth hormone (hGH) gene is controlled by a long-range enhancer, HSI, located 14.5 kb 5′ to the hGH promoter. HSI establishes a domain of noncoding transcription that is ‘looped’ to the hGH promoter as an essential step in initiating

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::b0ffdd71098664aee56e77e3fc46f7f2
http://europepmc.org/articles/PMC4344525

The Role of the Serum Vitamin D Binding Protein in the Actions of the Vitamin D Analog Eldecalcitol (ED-71) on Bone and Mineral Metabolism

Autor: Fanjie Zhang, Alex J. Brown, Cynthia S. Ritter, Nancy E. Cooke

Publikováno v: Calcified Tissue International. 93:163-171

The vitamin D analog ED-71 (eldecalcitol) has been shown to be superior to calcitriol and its precursor alfacalcidol in maintaining or increasing bone mass in women and animal models with osteoporosis. The mechanism for the greater effectiveness of E

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::18dfcd2dde171bc95463ee2328d11ff2
https://doi.org/10.1007/s00223-013-9737-3

Neurobeachin regulates neurotransmitter receptor trafficking to synapses

Autor: Nancy E. Cooke, SangYong Jung, Manfred W. Kilimann, Ramya Nair, Juliane Lauks, Nils Brose, Heidi de Wit, Jeong-Seop Rhee, Matthijs Verhage

Publikováno v: The Journal of Cell Biology
Journal of Cell Biology, 200(1), 61-80. Rockefeller University Press
The Journal of Cell Biology; Vol 200
Nair, R, Lauks, J, Jung, S, Cooke, N E, de Wit, H, Brose, N, Kilimann, M W, Verhage, M & Rhee, J 2013, ' Neurobeachin regulates neurotransmitter receptor trafficking to synapses ', Journal of Cell Biology, vol. 200, no. 1, pp. 61-80 . https://doi.org/10.1083/jcb.201207113

Neurobeachin regulates synaptic transmission by targeting neurotransmitter receptors to synapses under basal conditions.
The surface density of neurotransmitter receptors at synapses is a key determinant of synaptic efficacy. Synaptic receptor a

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e50a1f3d93865ccfabf6dd6ffbcf1d2f
http://europepmc.org/articles/PMC3542797