PMC Links for Protein (Select 1519242620) - PMC

Select item 69214241.

Homozygous variants in the HEXB and MBOAT7 genes underlie neurological diseases in consanguineous families

Shazia Khan, Lettie E. Rawlins, Gaurav V. Harlalka, Muhammad Umair, Asmat Ullah, Shaheen Shahzad, Muhammad Javed, Emma L. Baple, Andrew H. Crosby, Wasim Ahmad, Asma Gul

BMC Med Genet. 2019; 20: 199. Published online 2019 Dec 18. doi: 10.1186/s12881-019-0907-7

PMCID:: PMC6921424

Abstract Article PDF–917K

Select item 55316112.

Architecture of the human interactome defines protein communities and disease networks

Edward L. Huttlin, Raphael J. Bruckner, Joao A. Paulo, Joe R. Cannon, Lily Ting, Kurt Baltier, Greg Colby, Fana Gebreab, Melanie P. Gygi, Hannah Parzen, John Szpyt, Stanley Tam, Gabriela Zarraga, Laura Pontano-Vaites, Sharan Swarup, Anne E. White, Devin K. Schweppe, Ramin Rad, Brian K. Erickson, Robert A. Obar, K.G. Guruharsha, Kejie Li, Spyros Artavanis-Tsakonas, Steven P. Gygi, J. Wade Harper

Nature. Author manuscript; available in PMC 2017 Nov 17.

Published in final edited form as: Nature. 2017 May 25; 545(7655): 505–509. Published online 2017 May 17. doi: 10.1038/nature22366

PMCID:: PMC5531611

Abstract Article PDF–2.7M

Select item 4431033.

An unusual splicing mutation in the HEXB gene is associated with dramatically different phenotypes in patients from different racial backgrounds.

B McInnes, M Potier, N Wakamatsu, S B Melancon, M H Klavins, S Tsuji, D J Mahuran

J Clin Invest. 1992 Aug; 90(2): 306–314. doi: 10.1172/JCI115863

PMCID:: PMC443103

Summary Page Browse PDF–2.1M

Select item 4322844.

Tay-Sachs' and Sandhoff's diseases: the assignment of genes for hexosaminidase A and B to individual human chromosomes.

F Gilbert, R Kucherlapati, R P Creagan, M J Murnane, G J Darlington, F H Ruddle

Proc Natl Acad Sci U S A. 1975 Jan; 72(1): 263–267. doi: 10.1073/pnas.72.1.263

PMCID:: PMC432284

Summary Page Browse PDF–991K

Select item 57872145.

Canine GM2‐Gangliosidosis Sandhoff Disease Associated with a 3‐Base Pair Deletion in the HEXB Gene

P. Wang, P.S. Henthorn, E. Galban, G. Lin, T. Takedai, M. Casal

J Vet Intern Med. 2018 Jan-Feb; 32(1): 340–347. Published online 2017 Nov 6. doi: 10.1111/jvim.14862

PMCID:: PMC5787214

Abstract Article PDF–647K

Select item 24310716.

A fused lobes Gene Encodes the Processing β-N-Acetylglucosaminidase in Sf9 Cells

Christoph Geisler, Jared J. Aumiller, Donald L. Jarvis

J Biol Chem. 2008 Apr 25; 283(17): 11330–11339. doi: 10.1074/jbc.M710279200

PMCID:: PMC2431071

Abstract Article PDF–804K

Select item 19765887.

Enzymatic Properties and Subcellular Localization of Arabidopsis β-N-Acetylhexosaminidases

Richard Strasser, Jayakumar Singh Bondili, Jennifer Schoberer, Barbara Svoboda, Eva Liebminger, Josef Glössl, Friedrich Altmann, Herta Steinkellner, Lukas Mach

Plant Physiol. 2007 Sep; 145(1): 5–16. doi: 10.1104/pp.107.101162

Correction in:: Plant Physiol. 2008 Jun; 147(2): 931.

PMCID:: PMC1976588

Abstract Article PDF–1.2M

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