A CLN6-CLN8 complex recruits lysosomal enzymes at the ER for Golgi transfer

Autor: Bajaj, Lakshya, Sharma, Jaiprakash, di Ronza, Alberto, Zhang, Pengcheng, Eblimit, Aiden, Pal, Rituraj, Roman, Dany, Collette, John R, Booth, Clarissa, Chang, Kevin T, Sifers, Richard N, Jung, Sung Y, Weimer, Jill M, Chen, Rui, Schekman, Randy W, Sardiello, Marco

Publikováno v: The Journal of clinical investigation, vol 130, iss 8

Lysosomal enzymes are synthesized in the endoplasmic reticulum (ER) and transferred to the Golgi complex by interaction with the Batten disease protein CLN8 (ceroid lipofuscinosis, neuronal, 8). Here we investigated the relationship of this pathway w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______325::356d2755207edb33c7d57053a07b4760
https://escholarship.org/uc/item/4k12r75x

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1

Autor: Soens, Zachry T., Li, Yuanyuan, Zhao, Li, Eblimit, Aiden, Dharmat, Rachayata, Li, Yumei, Chen, Yiyun, Naqeeb, Mohammed, Fajardo, Norma, Lopez, Irma, Sun, Zhaoxia, Koenekoop, Robert K., Chen, Rui

Publikováno v: Genetics in medicine : official journal of the American College of Medical Genetics

Purpose Leber congenital amaurosis (LCA) is an early-onset form of retinal degeneration and six of the 22 known LCA disease genes encode photoreceptor ciliary proteins. Despite the identification of 22 LCA disease genes, the genetic basis of approxim

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::ebab265f53980bd9b365024c7b6fc26b
http://europepmc.org/articles/PMC4965339

Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa

Autor: Arno, Gavin, Agrawal, Smriti A, Eblimit, Aiden, Bellingham, James, Xu, Mingchu, Wang, Feng, Chakarova, Christina, Parfitt, David A, Lane, Amelia, Burgoyne, Thomas, Hull, Sarah, Carss, Keren J, Fiorentino, Alessia, Hayes, Matthew J, Munro, Peter M, Nicols, Ralph, Pontikos, Nikolas, Holder, Graham E, Asomugha, Chinwe, Raymond, F Lucy, Moore, Anthony T, Plagnol, Vincent, Michaelides, Michel, Hardcastle, Alison J, Li, Yumei, Cukras, Catherine, Webster, Andrew R, Cheetham, Michael E, Chen, Rui, Black, Graeme

Publikováno v: American journal of human genetics, vol 99, iss 6
Arno, G, Agrawal, S A, Eblimit, A, Bellingham, J, Xu, M, Wang, F, Chakarova, C, Parfitt, D A, Lane, A, Burgoyne, T, Hull, S, Carss, K J, Fiorentino, A, Hayes, M J, Munro, P M, Nicols, R, Pontikos, N, Holder, G E, Asomugha, C, Raymond, F L, Moore, A T, Plagnol, V, Michaelides, M, Hardcastle, A J, Li, Y, Cukras, C, Webster, A R, Cheetham, M E, Chen, R, UKIRDC & Black, G 2016, ' Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa ', American Journal of Human Genetics, vol. 99, no. 6, pp. 1305-1315 . https://doi.org/10.1016/j.ajhg.2016.10.008

Retinitis pigmentosa (RP) is the most frequent form of inherited retinal dystrophy. RP is genetically heterogeneous and the genes identified to date encode proteins involved in a wide range of functional pathways, including photoreceptor development,

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::b2e552e3d368c1a5c3ca19366191129f
https://escholarship.org/uc/item/0hc1b772

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