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Items: 19

1.
Maculopathy and adult‐onset ataxia in patients with biallelic MFSD8 variants
Sigurd Dobloug, Ulrika Kjellström, Glenn Anderson, Emily Gardner, Sara E. Mole, Jayesh Sheth, Andreas Puschmann
Mol Genet Genomic Med. 2024 Aug; 12(8): e2505. Published online 2024 Aug 7. doi: 10.1002/mgg3.2505
PMCID:
PMC11303817
AbstractArticlePDF–3.5M
2.
Contribution of Whole-Genome Sequencing and Transcript Analysis to Decipher Retinal Diseases Associated with MFSD8 Variants
Anaïs F. Poncet, Olivier Grunewald, Veronika Vaclavik, Isabelle Meunier, Isabelle Drumare, Valérie Pelletier, Béatrice Bocquet, Margarita G. Todorova, Anne-Gaëlle Le Moing, Aurore Devos, Daniel F. Schorderet, Florence Jobic, Sabine Defoort-Dhellemmes, Hélène Dollfus, Vasily M. Smirnov, Claire-Marie Dhaenens
Int J Mol Sci. 2022 Apr; 23(8): 4294. Published online 2022 Apr 13. doi: 10.3390/ijms23084294
PMCID:
PMC9032189
AbstractArticlePDF–3.6M
3.
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
AbstractArticlePDF–4.4M
4.
A Novel, Apparently Silent Variant in MFSD8 Causes Neuronal Ceroid Lipofuscinosis with Marked Intrafamilial Variability
Milda Reith, Lena Zeltner, Karin Schäferhoff, Dennis Witt, Theresia Zuleger, Tobias B. Haack, Antje Bornemann, Michael Alber, Susanne Ruf, Ludger Schoels, Katarina Stingl, Nicole Weisschuh
Int J Mol Sci. 2022 Feb; 23(4): 2271. Published online 2022 Feb 18. doi: 10.3390/ijms23042271
PMCID:
PMC8877174
AbstractArticlePDF–17M
5.
Aberrant upregulation of the glycolytic enzyme PFKFB3 in CLN7 neuronal ceroid lipofuscinosis
Irene Lopez-Fabuel, Marina Garcia-Macia, Costantina Buondelmonte, Olga Burmistrova, Nicolo Bonora, Paula Alonso-Batan, Brenda Morant-Ferrando, Carlos Vicente-Gutierrez, Daniel Jimenez-Blasco, Ruben Quintana-Cabrera, Emilio Fernandez, Jordi Llop, Pedro Ramos-Cabrer, Aseel Sharaireh, Marta Guevara-Ferrer, Lorna Fitzpatrick, Christopher D. Thompton, Tristan R. McKay, Stephan Storch, Diego L. Medina, Sara E. Mole, Peter O. Fedichev, Angeles Almeida, Juan P. Bolaños
Nat Commun. 2022; 13: 536. Published online 2022 Jan 27. doi: 10.1038/s41467-022-28191-1
PMCID:
PMC8795187
AbstractArticlePDF–4.3M
6.
CLN7 is an organellar chloride channel regulating lysosomal function
Yayu Wang, Wenping Zeng, Bingqian Lin, Yichuan Yao, Canjun Li, Wenqi Hu, Haotian Wu, Jiamin Huang, Mei Zhang, Tian Xue, Dejian Ren, Lili Qu, Chunlei Cang
Sci Adv. 2021 Dec; 7(51): eabj9608. Published online 2021 Dec 15. doi: 10.1126/sciadv.abj9608
PMCID:
PMC8673761
AbstractArticlePDF–5.3M
7.
Simultaneous Identification of Both MFSD8 and RDH12 Pathogenic Variants in a Chinese Family Affected With Retinitis Pigmentosa
Yihui Wang, Yanling Teng, Desheng Liang, Zhuo Li, Lingqian Wu
Front Genet. 2021; 12: 715100. Published online 2021 Sep 9. doi: 10.3389/fgene.2021.715100
PMCID:
PMC8458757
AbstractArticlePDF–2.6M
8.
N6-methyladenosine on mRNA facilitates a phase-separated nuclear body that suppresses myeloid leukemic differentiation
Yuanming Cheng, Wei Xie, Brian F Pickering, Karen L Chu, Angela M Savino, Xuejing Yang, Hanzhi Luo, Diu TT Nguyen, Shanlan Mo, Ersilia Barin, Anthony Velleca, Thomas Rohwetter, Dinshaw J Patel, Samie R Jaffrey, Michael G Kharas
Cancer Cell. Author manuscript; available in PMC 2022 Jul 12.
Published in final edited form as: Cancer Cell. 2021 Jul 12; 39(7): 958–972.e8. Published online 2021 May 27. doi: 10.1016/j.ccell.2021.04.017
PMCID:
PMC8282764
AbstractArticlePDF–3.4M
9.
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
10.
Rare variants in the neuronal ceroid lipofuscinosis gene MFSD8 are candidate risk factors for frontotemporal dementia
Ethan G. Geier, Mathieu Bourdenx, Nadia J. Storm, J. Nicholas Cochran, Daniel W. Sirkis, Ji-Hye Hwang, Luke W. Bonham, Eliana Marisa Ramos, Antonio Diaz, Victoria Van Berlo, Deepika Dokuru, Alissa L. Nana, Anna Karydas, Maureen E. Balestra, Yadong Huang, Silvia P. Russo, Salvatore Spina, Lea T. Grinberg, William W. Seeley, Richard M. Myers, Bruce L. Miller, Giovanni Coppola, Suzee E. Lee, Ana Maria Cuervo, Jennifer S. Yokoyama
Acta Neuropathol. Author manuscript; available in PMC 2020 Jan 1.
Published in final edited form as: Acta Neuropathol. 2019 Jan; 137(1): 71–88. Published online 2018 Oct 31. doi: 10.1007/s00401-018-1925-9
PMCID:
PMC6371791
AbstractArticlePDF–725K
11.
A novel MFSD8 mutation in a Russian patient with neuronal ceroid lipofuscinosis type 7: a case report
Anastasiya Aleksandrovna Kozina, Elena Grigorievna Okuneva, Natalia Vladimirovna Baryshnikova, Anna Yurievna Krasnenko, Kirill Yurievich Tsukanov, Olesya Igorevna Klimchuk, Olga Borisovna Kondakova, Anna Nikolaevna Larionova, Tatyana Timofeevna Batysheva, Ekaterina Ivanovna Surkova, Peter Alekseevich Shatalov, Valery Vladimirovich Ilinsky
BMC Med Genet. 2018; 19: 151. Published online 2018 Aug 25. doi: 10.1186/s12881-018-0669-7
PMCID:
PMC6109285
AbstractArticlePDF–1.9M
12.
Loss of CLN7 results in depletion of soluble lysosomal proteins and impaired mTOR reactivation
Tatyana Danyukova, Khandsuren Ariunbat, Melanie Thelen, Nahal Brocke-Ahmadinejad, Sara E Mole, Stephan Storch
Hum Mol Genet. 2018 May 15; 27(10): 1711–1722. Published online 2018 Mar 5. doi: 10.1093/hmg/ddy076
PMCID:
PMC5932567
AbstractArticlePDF–710K
13.
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
AbstractArticlePDF–2.7M
14.
The BioPlex Network: A Systematic Exploration of the Human Interactome
Edward L. Huttlin, Lily Ting, Raphael J. Bruckner, Fana Gebreab, Melanie P. Gygi, John Szpyt, Stanley Tam, Gabriela Zarraga, Greg Colby, Kurt Baltier, Rui Dong, Virginia Guarani, Laura Pontano Vaites, Alban Ordureau, Ramin Rad, Brian K. Erickson, Martin Wühr, Joel Chick, Bo Zhai, Deepak Kolippakkam, Julian Mintseris, Robert A. Obar, Tim Harris, Spyros Artavanis-Tsakonas, Mathew E. Sowa, Pietro DeCamilli, Joao A. Paulo, J. Wade Harper, Steven P. Gygi
Cell. Author manuscript; available in PMC 2016 Jul 16.
Published in final edited form as: Cell. 2015 Jul 16; 162(2): 425–440. doi: 10.1016/j.cell.2015.06.043
PMCID:
PMC4617211
AbstractArticlePDF–2.2M
15.
Expression and lysosomal targeting of CLN7, a major facilitator superfamily transporter associated with variant late-infantile neuronal ceroid lipofuscinosis
A. Sharifi, M. Kousi, C. Sagné, G.C. Bellenchi, L. Morel, M. Darmon, H. Hůlková, R. Ruivo, C. Debacker, S. El Mestikawy, M. Elleder, A.-E. Lehesjoki, A. Jalanko, B. Gasnier, A. Kyttälä
Hum Mol Genet. 2010 Nov 15; 19(22): 4497–4514. Published online 2010 Sep 7. doi: 10.1093/hmg/ddq381
PMCID:
PMC3298853
AbstractArticlePDF–1.2M
16.
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
17.
The Novel Neuronal Ceroid Lipofuscinosis Gene MFSD8 Encodes a Putative Lysosomal Transporter
Eija  Siintola, Meral  Topcu, Nina  Aula, Hannes  Lohi, Berge A.  Minassian, Andrew D.  Paterson, Xiao-Qing  Liu, Callum  Wilson, Ulla  Lahtinen, Anna-Kaisa  Anttonen, Anna-Elina  Lehesjoki
Am J Hum Genet. 2007 Jul; 81(1): 136–146. Published online 2007 May 14. doi: 10.1086/518902
PMCID:
PMC1950917
AbstractArticlePDF–701K
18.
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
19.
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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