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Items: 17

1.
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
AbstractArticlePDF–7.2M
2.
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
AbstractArticlePDF–1.9M
3.
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
AbstractArticlePDF–2.2M
4.
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
AbstractArticlePDF–6.4M
5.
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
AbstractArticlePDF–12M
6.
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
AbstractArticlePDF–2.7M
7.
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
AbstractArticlePDF–1.0M
8.
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
AbstractArticlePDF–585K
9.
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
AbstractArticlePDF–1.0M
10.
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
AbstractArticlePDF–620K
11.
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
AbstractArticlePDF–1.8M
12.
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
AbstractArticlePDF–392K
13.
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
SummaryPDF–84K
14.
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
AbstractArticlePDF–3.4M
15.
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
AbstractArticlePDF–2.7M
16.
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
AbstractArticlePDF–438K
17.
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
AbstractArticlePDF–118K

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