PMC Links for GEO Profiles (Select 131604313) - PMC

Select item 89515561.

A BioID-Derived Proximity Interactome for SARS-CoV-2 Proteins

Danielle G. May, Laura Martin-Sancho, Valesca Anschau, Sophie Liu, Rachel J. Chrisopulos, Kelsey L. Scott, Charles T. Halfmann, Ramon Díaz Peña, Dexter Pratt, Alexandre R. Campos, Kyle J. Roux

Viruses. 2022 Mar; 14(3): 611. Published online 2022 Mar 15. doi: 10.3390/v14030611

PMCID:: PMC8951556

Abstract Article PDF–4.4M

Select item 83073692.

CLN8 Mutations Presenting with a Phenotypic Continuum of Neuronal Ceroid Lipofuscinosis—Literature Review and Case Report

Magdalena Badura-Stronka, Anna Winczewska-Wiktor, Anna Pietrzak, Adam Sebastian Hirschfeld, Tomasz Zemojtel, Katarzyna Wołyńska, Katarzyna Bednarek-Rajewska, Monika Seget-Dubaniewicz, Agnieszka Matheisel, Anna Latos-Bielenska, Barbara Steinborn

Genes (Basel) 2021 Jul; 12(7): 956. Published online 2021 Jun 23. doi: 10.3390/genes12070956

PMCID:: PMC8307369

Abstract Article PDF–2.7M

Select item 74100543.

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

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

J Clin Invest. 2020 Aug 3; 130(8): 4118–4132. Published online 2020 Jun 29. doi: 10.1172/JCI130955

PMCID:: PMC7410054

Abstract Article PDF–8.5M

Select item 62772104.

CLN8 is an ER cargo receptor that regulates lysosome biogenesis

Alberto di Ronza, Lakshya Bajaj, Jaiprakash Sharma, Deepthi Sanagasetti, Parisa Lotfi, Carolyn Joy Adamski, John Collette, Michela Palmieri, Abdallah Amawi, Lauren Popp, Kevin Tommy Chang, Maria Chiara Meschini, Hon-Chiu Eastwood Leung, Laura Segatori, Alessandro Simonati, Richard Norman Sifers, Filippo Maria Santorelli, Marco Sardiello

Nat Cell Biol. Author manuscript; available in PMC 2019 May 5.

Published in final edited form as: Nat Cell Biol. 2018 Dec; 20(12): 1370–1377. Published online 2018 Nov 5. doi: 10.1038/s41556-018-0228-7

PMCID:: PMC6277210

Abstract Article PDF–2.7M

Select item 61451795.

Genetic and Physical Mapping of the Progressive Epilepsy with Mental Retardation (EPMR) Locus on Chromosome 8p

Susanna Ranta, Anna-Elina Lehesjoki, Aune Hirvasniemi, Jean Weissenbach, Barbara Ross, Suzanne M. Leal, Albert de la Chapelle, T. Conrad Gilliam

Genome Res. Author manuscript; available in PMC 2018 Sep 19.

Published in final edited form as: Genome Res. 1996 May; 6(5): 351–360. doi: 10.1101/gr.6.5.351

PMCID:: PMC6145179

Abstract Article PDF–514K

Select item 53717306.

Systematic protein–protein interaction mapping for clinically relevant human GPCRs

Kate Sokolina, Saranya Kittanakom, Jamie Snider, Max Kotlyar, Pascal Maurice, Jorge Gandía, Abla Benleulmi‐Chaachoua, Kenjiro Tadagaki, Atsuro Oishi, Victoria Wong, Ramy H Malty, Viktor Deineko, Hiroyuki Aoki, Shahreen Amin, Zhong Yao, Xavier Morató, David Otasek, Hiroyuki Kobayashi, Javier Menendez, Daniel Auerbach, Stephane Angers, Natasa Pržulj, Michel Bouvier, Mohan Babu, Francisco Ciruela, Ralf Jockers, Igor Jurisica, Igor Stagljar

Mol Syst Biol. 2017 Mar; 13(3): 918. Published online 2017 Mar 15. doi: 10.15252/msb.20167430

PMCID:: PMC5371730

Abstract Article PDF–4.1M

Select item 46828297.

Resequencing and Association Analysis of CLN8 with Autism Spectrum Disorder in a Japanese Population

Emiko Inoue, Yuichiro Watanabe, Jingrui Xing, Itaru Kushima, Jun Egawa, Shujiro Okuda, Satoshi Hoya, Takashi Okada, Yota Uno, Kanako Ishizuka, Atsunori Sugimoto, Hirofumi Igeta, Ayako Nunokawa, Toshiro Sugiyama, Norio Ozaki, Toshiyuki Someya

PLoS One. 2015; 10(12): e0144624. Published online 2015 Dec 14. doi: 10.1371/journal.pone.0144624

PMCID:: PMC4682829

Abstract Article PDF–233K

Select item 36840258.

Genome-wide Association Study of N370S Homozygous Gaucher Disease Reveals the Candidacy of CLN8 gene as a Genetic Modifier Contributing to Extreme Phenotypic Variation

Clarence K. Zhang, Philip B. Stein, Jun Liu, Gregory M. Pastores, Zuoheng Wang, Ruhua Yang, Judy H. Cho, Peter K. Gregersen, Johannes M. F. G. Aerts, Hongyu Zhao, Pramod K. Mistry

Am J Hematol. Author manuscript; available in PMC 2013 Jun 17.

Published in final edited form as: Am J Hematol. 2012 Apr; 87(4): 377–383. Published online 2012 Mar 3. doi: 10.1002/ajh.23118

PMCID:: PMC3684025

Abstract Article PDF–2.0M

Select item 31780599.

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

Select item 279044310.

Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins

Annina Lyly, Carina von Schantz, Claudia Heine, Mia-Lisa Schmiedt, Tessa Sipilä, Anu Jalanko, Aija Kyttälä

BMC Cell Biol. 2009; 10: 83. Published online 2009 Nov 26. doi: 10.1186/1471-2121-10-83

PMCID:: PMC2790443

Abstract Article PDF–2.0M

Select item 135612911.

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 118061212.

Slowed Conduction and Thin Myelination of Peripheral Nerves Associated with Mutant Rho Guanine-Nucleotide Exchange Factor 10

Kristien Verhoeven, Peter De Jonghe, Tom Van de Putte, Eva Nelis, An Zwijsen, Nathalie Verpoorten, Els De Vriendt, An Jacobs, Veerle Van Gerwen, Annick Francis, Chantal Ceuterick, Danny Huylebroeck, Vincent Timmerman

Am J Hum Genet. 2003 Oct; 73(4): 926–932. Published online 2003 Aug 19. doi: 10.1086/378159

PMCID:: PMC1180612

Abstract Article PDF–670K

Select item 52892813.

The Status, Quality, and Expansion of the NIH Full-Length cDNA Project: The Mammalian Gene Collection (MGC)

Genome Res. 2004 Oct; 14(10b): 2121–2127. doi: 10.1101/gr.2596504

Correction in:: Genome Res. 2006 Jun; 16(6): 804.

PMCID:: PMC528928

Abstract Article PDF–140K

Select item 13924114.

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

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