PMC Links for Gene (Select 138050) - PMC

Select item 110153921.

Identification and characterization of novel genetic variants in the first Chinese family of mucopolysaccharidosis IIIC (Sanfilippo C syndrome)

Hongjun Zhao, Lijing Wang, Mengfei Zhang, Huakun Wang, Sizhe Zhang, Junjiao Wu, Yu Tang

J Cell Mol Med. 2024 Apr; 28(8): e18307. Published online 2024 Apr 13. doi: 10.1111/jcmm.18307

PMCID:: PMC11015392

Abstract Article PDF–7.2M

Select item 81253302.

A genetic and clinical study of individuals with nonsyndromic retinopathy consequent upon sequence variants in HGSNAT, the gene associated with Sanfilippo C mucopolysaccharidosis

Elena R. Schiff, Malena Daich Varela, Anthony G. Robson, Karen Pierpoint, Rola Ba‐Abbad, Savita Nutan, Wadih M. Zein, Ehsan Ullah, Laryssa A. Huryn, Sari Tuupanen, Omar A. Mahroo, Michel Michaelides, Derek Burke, Katie Harvey, Gavin Arno, Robert B. Hufnagel, Andrew R. Webster

Am J Med Genet C Semin Med Genet. 2020 Sep; 184(3): 631–643. Published online 2020 Aug 7. doi: 10.1002/ajmg.c.31822

PMCID:: PMC8125330

Abstract Article PDF–6.4M

Select item 52559493.

Klüver–Bucy syndrome associated with a recessive variant in HGSNAT in two siblings with Mucopolysaccharidosis type IIIC (Sanfilippo C)

Hao Hu, Christoph Hübner, Zoltan Lukacs, Luciana Musante, Esther Gill, Thomas F Wienker, Hans-Hilger Ropers, Ellen Knierim, Markus Schuelke

Eur J Hum Genet. 2017 Feb; 25(2): 253–256. Published online 2016 Nov 9. doi: 10.1038/ejhg.2016.149

PMCID:: PMC5255949

Abstract Article PDF–1.0M

Select item 31778624.

Characterization of the Biosynthesis, Processing and Kinetic Mechanism of Action of the Enzyme Deficient in Mucopolysaccharidosis IIIC

Xiaolian Fan, Ilona Tkachyova, Ankit Sinha, Brigitte Rigat, Don Mahuran

PLoS One. 2011; 6(9): e24951. Published online 2011 Sep 21. doi: 10.1371/journal.pone.0024951

PMCID:: PMC3177862

Abstract Article PDF–620K

Select item 17356285.

Localisation of a gene for mucopolysaccharidosis IIIC to the pericentromeric region of chromosome 8

J Ausseil, J Loredo-Osti, A Verner, C Darmond-Zwaig, I Maire, B Poorthuis, O P van Diggelen, T Hudson, T Fujiwara, K Morgan, A Pshezhetsky

J Med Genet. 2004 Dec; 41(12): 941–945. doi: 10.1136/jmg.2004.021501

PMCID:: PMC1735628

Summary PDF–84K

Select item 44593926.

Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT)

Lonneke Haer-Wigman, Hadas Newman, Rina Leibu, Nathalie M. Bax, Hagit N Baris, Leah Rizel, Eyal Banin, Amir Massarweh, Susanne Roosing, Dirk J. Lefeber, Marijke N. Zonneveld-Vrieling, Ofer Isakov, Noam Shomron, Dror Sharon, Anneke I. Den Hollander, Carel B. Hoyng, Frans P.M. Cremers, Tamar Ben-Yosef

Hum Mol Genet. 2015 Jul 1; 24(13): 3742–3751. Published online 2015 Apr 9. doi: 10.1093/hmg/ddv118

PMCID:: PMC4459392

Abstract Article PDF–585K

Select item 27576737.

Protein Misfolding as an Underlying Molecular Defect in Mucopolysaccharidosis III Type C

Matthew Feldhammer, Stéphanie Durand, Alexey V. Pshezhetsky

PLoS One. 2009; 4(10): e7434. Published online 2009 Oct 13. doi: 10.1371/journal.pone.0007434

PMCID:: PMC2757673

Abstract Article PDF–392K

Select item 15925698.

Identification of the Gene Encoding the Enzyme Deficient in Mucopolysaccharidosis IIIC (Sanfilippo Disease Type C)

Xiaolian Fan, Huiwen Zhang, Sunqu Zhang, Richard D. Bagshaw, Michael B. Tropak, John W. Callahan, Don J. Mahuran

Am J Hum Genet. 2006 Oct; 79(4): 738–744. Published online 2006 Aug 23. doi: 10.1086/508068

PMCID:: PMC1592569

Abstract Article PDF–2.7M

Select item 16985569.

Mutations in TMEM76 Cause Mucopolysaccharidosis IIIC (Sanfilippo C Syndrome)

Martin Hřebíček, Lenka Mrázová, Volkan Seyrantepe, Stéphanie Durand, Nicole M. Roslin, Lenka Nosková, Hana Hartmannová, Robert Ivánek, Alena Čížková, Helena Poupětová, Jakub Sikora, Jana Uřinovská, Viktor Stránecký, Jiří Zeman, Pierre Lepage, David Roquis, Andrei Verner, Jérôme Ausseil, Clare E. Beesley, Irène Maire, Ben J. H. M. Poorthuis, Jiddeke van de Kamp, Otto P. van Diggelen, Ron A. Wevers, Thomas J. Hudson, T. Mary Fujiwara, Jacek Majewski, Kenneth Morgan, Stanislav Kmoch, Alexey V. Pshezhetsky

Am J Hum Genet. 2006 Nov; 79(5): 807–819. Published online 2006 Sep 8. doi: 10.1086/508294

PMCID:: PMC1698556

Abstract Article PDF–3.4M

Select item 295119710.

Analysis of the Biogenesis of Heparan Sulfate Acetyl-CoA:α-Glucosaminide N-Acetyltransferase Provides Insights into the Mechanism Underlying Its Complete Deficiency in Mucopolysaccharidosis IIIC

Stéphanie Durand, Matthew Feldhammer, Éric Bonneil, Pierre Thibault, Alexey V. Pshezhetsky

J Biol Chem. 2010 Oct 8; 285(41): 31233–31242. Published online 2010 Jul 22. doi: 10.1074/jbc.M110.141150

PMCID:: PMC2951197

Abstract Article PDF–1.8M

Select item 764232711.

A trimeric Rab7 GEF controls NPC1-dependent lysosomal cholesterol export

Dick J. H. van den Boomen, Agata Sienkiewicz, Ilana Berlin, Marlieke L. M. Jongsma, Daphne M. van Elsland, J. Paul Luzio, Jacques J. C. Neefjes, Paul J. Lehner

Nat Commun. 2020; 11: 5559. Published online 2020 Nov 3. doi: 10.1038/s41467-020-19032-0

PMCID:: PMC7642327

Abstract Article PDF–12M

Select item 917141112.

Physical and functional interactome atlas of human receptor tyrosine kinases

Kari Salokas, Xiaonan Liu, Tiina Öhman, Iftekhar Chowdhury, Lisa Gawriyski, Salla Keskitalo, Markku Varjosalo

EMBO Rep. 2022 Jun; 23(6): e54041. Published online 2022 Apr 5. doi: 10.15252/embr.202154041

PMCID:: PMC9171411

Abstract Article PDF–1.9M

Select item 732206713.

RIG-I regulates myeloid differentiation by promoting TRIM25-mediated ISGylation

Song-Fang Wu, Li Xia, Xiao-Dong Shi, Yu-Jun Dai, Wei-Na Zhang, Jun-Mei Zhao, Wu Zhang, Xiang-Qin Weng, Jing Lu, Huang-Ying Le, Sheng-ce Tao, Jiang Zhu, Zhu Chen, Yue-Ying Wang, Saijuan Chen

Proc Natl Acad Sci U S A. 2020 Jun 23; 117(25): 14395–14404. Published online 2020 Jun 8. doi: 10.1073/pnas.1918596117

PMCID:: PMC7322067

Abstract Article PDF–2.7M

Select item 135612914.

Diversification of transcriptional modulation: Large-scale identification and characterization of putative alternative promoters of human genes

Kouichi Kimura, Ai Wakamatsu, Yutaka Suzuki, Toshio Ota, Tetsuo Nishikawa, Riu Yamashita, Jun-ichi Yamamoto, Mitsuo Sekine, Katsuki Tsuritani, Hiroyuki Wakaguri, Shizuko Ishii, Tomoyasu Sugiyama, Kaoru Saito, Yuko Isono, Ryotaro Irie, Norihiro Kushida, Takahiro Yoneyama, Rie Otsuka, Katsuhiro Kanda, Takahide Yokoi, Hiroshi Kondo, Masako Wagatsuma, Katsuji Murakawa, Shinichi Ishida, Tadashi Ishibashi, Asako Takahashi-Fujii, Tomoo Tanase, Keiichi Nagai, Hisashi Kikuchi, Kenta Nakai, Takao Isogai, Sumio Sugano

Genome Res. 2006 Jan; 16(1): 55–65. doi: 10.1101/gr.4039406

PMCID:: PMC1356129

Abstract Article PDF–438K

Select item 816503015.

Dual Proteome-scale Networks Reveal Cell-specific Remodeling of the Human Interactome

Edward L. Huttlin, Raphael J. Bruckner, Jose Navarrete-Perea, Joe R. Cannon, Kurt Baltier, Fana Gebreab, Melanie P. Gygi, Alexandra Thornock, Gabriela Zarraga, Stanley Tam, John Szpyt, Brandon M. Gassaway, Alexandra Panov, Hannah Parzen, Sipei Fu, Arvene Golbazi, Eila Maenpaa, Keegan Stricker, Sanjukta Guha Thakurta, Tian Zhang, Ramin Rad, Joshua Pan, David P. Nusinow, Joao A. Paulo, Devin K. Schweppe, Laura Pontano Vaites, J. Wade Harper, Steven P. Gygi

Cell. Author manuscript; available in PMC 2022 May 27.

Published in final edited form as: Cell. 2021 May 27; 184(11): 3022–3040.e28. Published online 2021 May 6. doi: 10.1016/j.cell.2021.04.011

PMCID:: PMC8165030

Abstract Article PDF–2.2M

Select item 13924116.

Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences

Mammalian Gene Collection (MGC) Program Team

Proc Natl Acad Sci U S A. 2002 Dec 24; 99(26): 16899–16903. Published online 2002 Dec 11. doi: 10.1073/pnas.242603899

PMCID:: PMC139241

Abstract Article PDF–118K

Select item 317805917.

Phylogenetic-based propagation of functional annotations within the Gene Ontology consortium

Pascale Gaudet, Michael S. Livstone, Suzanna E. Lewis, Paul D. Thomas

Brief Bioinform. 2011 Sep; 12(5): 449–462. Published online 2011 Aug 27. doi: 10.1093/bib/bbr042

PMCID:: PMC3178059

Abstract Article PDF–1.0M

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