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Items: 1 to 20 of 76

1.
Antagonistic roles of canonical and alternative-RPA in disease-associated tandem CAG repeat instability
Terence Gall-Duncan, Jennifer Luo, Carla-Marie Jurkovic, Laura A. Fischer, Kyota Fujita, Amit L. Deshmukh, Rachel J. Harding, Stephanie Tran, Mustafa Mehkary, Vanessa Li, David E. Leib, Ran Chen, Hikari Tanaka, Amanda G. Mason, Dominique Lévesque, Mahreen Khan, Mortezaali Razzaghi, Tanya Prasolava, Stella Lanni, Nozomu Sato, Marie-Christine Caron, Gagan B. Panigrahi, Peixiang Wang, Rachel Lau, Arturo López Castel, Jean-Yves Masson, Lynette Tippett, Clinton Turner, Maria Spies, Albert R. La Spada, Eric I. Campos, Maurice A. Curtis, François-Michel Boisvert, Richard L.M. Faull, Beverly L. Davidson, Masayuki Nakamori, Hitoshi Okazawa, Marc S. Wold, Christopher E. Pearson
Cell. Author manuscript; available in PMC 2024 Oct 26.
Published in final edited form as: Cell. 2023 Oct 26; 186(22): 4898–4919.e25. Published online 2023 Oct 11. doi: 10.1016/j.cell.2023.09.008
PMCID:
PMC11209935
AbstractArticlePDF–3.0M
2.
Some aspects of the life of SARS-CoV-2 ORF3a protein in mammalian cells
Song Jiao, Pablo Miranda, Yan Li, Dragan Maric, Miguel Holmgren
Heliyon. 2023 Aug; 9(8): e18754. Published online 2023 Aug 1. doi: 10.1016/j.heliyon.2023.e18754
PMCID:
PMC10440475
AbstractArticlePDF–8.9M
3.
Genotype, phenotype and treatment outcomes of 17 Malaysian patients with infantile-onset Pompe disease and the identification of 3 novel GAA variants
Mei-Yan Chan, Julaina Abdul Jalil, Yusnita Yakob, Siti Aishah Abdul Wahab, Ernie Zuraida Ali, Mohd Khairul Nizam Mohd Khalid, Huey-Yin Leong, Hui-Bein Chew, Jeya Bawani Sivabalakrishnan, Lock-Hock Ngu
Orphanet J Rare Dis. 2023; 18: 231. Published online 2023 Aug 4. doi: 10.1186/s13023-023-02848-6
PMCID:
PMC10403872
AbstractArticlePDF–1.4M
4.
Phase I study of liver depot gene therapy in late-onset Pompe disease
Edward C. Smith, Sam Hopkins, Laura E. Case, Ming Xu, Crista Walters, Stephanie Dearmey, Sang-oh Han, Tracy G. Spears, Jessica A. Chichester, Edward H. Bossen, Christoph P. Hornik, Jennifer L. Cohen, Deeksha Bali, Priya S. Kishnani, Dwight D. Koeberl
Mol Ther. 2023 Jul 5; 31(7): 1994–2004. Published online 2023 Feb 18. doi: 10.1016/j.ymthe.2023.02.014
PMCID:
PMC10362382
AbstractArticlePDF–2.6M
5.
TRIM67 drives tumorigenesis in oligodendrogliomas through Rho GTPase-dependent membrane blebbing
Engin Demirdizen, Ruslan Al-Ali, Ashwin Narayanan, Xueyuan Sun, Julianna Patricia Varga, Bianca Steffl, Manuela Brom, Damir Krunic, Claudia Schmidt, Gabriele Schmidt, Felix Bestvater, Julian Taranda, Şevin Turcan
Neuro Oncol. 2023 Jun; 25(6): 1031–1043. Published online 2022 Nov 22. doi: 10.1093/neuonc/noac233
PMCID:
PMC10237422
AbstractArticlePDF–23M
6.
CRISPR-mediated generation and characterization of a Gaa homozygous c.1935C>A (p.D645E) Pompe disease knock-in mouse model recapitulating human infantile onset-Pompe disease
Shih-hsin Kan, Jeffrey Y. Huang, Jerry Harb, Allisandra Rha, Nancy D. Dalton, Chloe Christensen, Yunghang Chan, Jeremy Davis-Turak, Jonathan Neumann, Raymond Y. Wang
Sci Rep. 2022; 12: 21576. Published online 2022 Dec 14. doi: 10.1038/s41598-022-25914-8
PMCID:
PMC9751086
AbstractArticlePDF–3.9M
7.
Genotypic and phenotypic characteristics of 12 chinese children with glycogen storage diseases
Rui Dong, Xuxia Wei, Kaihui Zhang, Fengling Song, Yuqiang Lv, Min Gao, Dong Wang, Jian Ma, Zhongtao Gai, Yi Liu
Front Genet. 2022; 13: 932760. Published online 2022 Aug 29. doi: 10.3389/fgene.2022.932760
PMCID:
PMC9465291
AbstractArticlePDF–1.5M
8.
Early-onset of symptoms and clinical course of Pompe disease associated with the c.-32–13 T > G variant
Mrudu Herbert, Laura E. Case, Mugdha Rairikar, Heidi Cope, Lauren Bailey, Stephanie L. Austin, Priya S. Kishnani
Mol Genet Metab. Author manuscript; available in PMC 2022 Jul 25.
Published in final edited form as: Mol Genet Metab. 2019 Feb; 126(2): 106–116. Published online 2018 Aug 23. doi: 10.1016/j.ymgme.2018.08.009
PMCID:
PMC9310053
AbstractArticlePDF–458K
9.
Broad variation in phenotypes for common GAA genotypes in Pompe disease
Monica Y. Niño, Stijn L. M. in't Groen, Douglas O. S. de Faria, Marianne Hoogeveen‐Westerveld, Hannerieke J. M. P. van den Hout, Ans T. van der Ploeg, Atze J. Bergsma, W. W. M. Pim Pijnappel
Hum Mutat. 2021 Nov; 42(11): 1461–1472. Published online 2021 Sep 8. doi: 10.1002/humu.24272
PMCID:
PMC9292902
AbstractArticlePDF–2.3M
10.
Classic infantile‐onset Pompe disease with histopathological neurologic findings linked to a novel GAA gene 4 bp deletion: A case study
Magdalena Cerón‐Rodríguez, Daniela Castillo‐García, Carlos‐Patricio Acosta‐Rodríguez‐Bueno, Jesús Aguirre‐Hernández, Juan‐Rafael Murillo‐Eliosa, Pedro Valencia‐Mayoral, Argelia Escobar‐Sánchez, Juan‐Luis Salgado‐Loza
Mol Genet Genomic Med. 2022 Jul; 10(7): e1957. Published online 2022 May 9. doi: 10.1002/mgg3.1957
PMCID:
PMC9266604
AbstractArticlePDF–2.6M
11.
To detect potential pathways and target genes in infantile Pompe patients using computational analysis
Aynur Karadağ Gürel, Selçuk Gürel
Bioimpacts. 2022; 12(2): 89–105. Published online 2022 Jan 22. doi: 10.34172/bi.2022.23467
PMCID:
PMC8905584
AbstractArticlePDF–6.3M
12.
SARS‐CoV‐2–host proteome interactions for antiviral drug discovery
Xiaonan Liu, Sini Huuskonen, Tuomo Laitinen, Taras Redchuk, Mariia Bogacheva, Kari Salokas, Ina Pöhner, Tiina Öhman, Arun Kumar Tonduru, Antti Hassinen, Lisa Gawriyski, Salla Keskitalo, Maria K Vartiainen, Vilja Pietiäinen, Antti Poso, Markku Varjosalo
Mol Syst Biol. 2021 Nov; 17(11): e10396. Published online 2021 Oct 28. doi: 10.15252/msb.202110396
PMCID:
PMC8552907
AbstractArticlePDF–3.9M
13.
Matrix-screening reveals a vast potential for direct protein-protein interactions among RNA binding proteins
Benjamin Lang, Jae-Seong Yang, Mireia Garriga-Canut, Silvia Speroni, Moritz Aschern, Maria Gili, Tobias Hoffmann, Gian Gaetano Tartaglia, Sebastian P Maurer
Nucleic Acids Res. 2021 Jul 9; 49(12): 6702–6721. Published online 2021 Jun 16. doi: 10.1093/nar/gkab490
PMCID:
PMC8266617
AbstractArticlePDF–4.0M
14.
Endolysosomal N-glycan processing is critical to attain the most active form of the enzyme acid alpha-glucosidase
Nithya Selvan, Nickita Mehta, Suresh Venkateswaran, Nastry Brignol, Matthew Graziano, M. Osman Sheikh, Yuliya McAnany, Finn Hung, Matthew Madrid, Renee Krampetz, Nicholas Siano, Anuj Mehta, Jon Brudvig, Russell Gotschall, Jill M. Weimer, Hung V. Do
J Biol Chem. 2021 Jan-Jun; 296: 100769. Published online 2021 May 8. doi: 10.1016/j.jbc.2021.100769
PMCID:
PMC8191302
AbstractArticlePDF–3.0M
15.
Suppression of lysosomal acid alpha‐glucosidase impacts the modulation of transcription factor EB translocation in pancreatic cancer
Ryoga Hamura, Yoshihiro Shirai, Yohta Shimada, Nobuhiro Saito, Tomohiko Taniai, Takashi Horiuchi, Naoki Takada, Yumi Kanegae, Toru Ikegami, Toya Ohashi, Katsuhiko Yanaga
Cancer Sci. 2021 Jun; 112(6): 2335–2348. Published online 2021 May 3. doi: 10.1111/cas.14921
PMCID:
PMC8177769
AbstractArticlePDF–2.4M
16.
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
17.
USP11 mediates repair of DNA–protein cross-links by deubiquitinating SPRTN metalloprotease
Megan Perry, Meghan Biegert, Sai Sundeep Kollala, Halle Mallard, Grace Su, Manohar Kodavati, Natasha Kreiling, Alexander Holbrook, Gargi Ghosal
J Biol Chem. 2021 Jan-Jun; 296: 100396. Published online 2021 Feb 7. doi: 10.1016/j.jbc.2021.100396
PMCID:
PMC7960550
AbstractArticlePDF–1.5M
18.
The Release of a Soluble Glycosylated Protein from Glycogen by Recombinant Lysosomal α-Glucosidase (rhGAA) In Vitro and Its Presence in Serum In Vivo
Allen K. Murray
Biomolecules. 2020 Dec; 10(12): 1613. Published online 2020 Nov 29. doi: 10.3390/biom10121613
PMCID:
PMC7761001
AbstractArticlePDF–4.9M
19.
BCAR1 promotes proliferation and cell growth in lung adenocarcinoma via upregulation of POLR2A
Chun‐guo Mao, Sha‐sha Jiang, Cheng Shen, Tan Long, Hua Jin, Qun‐You Tan, Bo Deng
Thorac Cancer. 2020 Nov; 11(11): 3326–3336. Published online 2020 Oct 1. doi: 10.1111/1759-7714.13676
PMCID:
PMC7606008
AbstractArticlePDF–2.5M
20.
Identification of Undetected Monogenic Cardiovascular Disorders
Jawan W. Abdulrahim, Lydia Coulter Kwee, Fawaz Alenezi, Albert Y. Sun, Aris Baras, Teminioluwa A. Ajayi, Ricardo Henao, Christopher Holley, Robert McGarrah, James P. Daubert, Lauren Truby, Sreekanth Vemulapalli, Andrew Wang, Michel G. Khouri, Svati H. Shah
J Am Coll Cardiol. Author manuscript; available in PMC 2021 Aug 18.
Published in final edited form as: J Am Coll Cardiol. 2020 Aug 18; 76(7): 797–808. doi: 10.1016/j.jacc.2020.06.037
PMCID:
PMC7428466
AbstractArticlePDF–890K

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