Zobrazeno 1 - 10
of 80
pro vyhledávání: '"Cathleen M Lutz"'
Autor:
Dana M Talsness, Katie G Owings, Emily Coelho, Gaelle Mercenne, John M Pleinis, Raghavendran Partha, Kevin A Hope, Aamir R Zuberi, Nathan L Clark, Cathleen M Lutz, Aylin R Rodan, Clement Y Chow
Publikováno v:
eLife, Vol 9 (2020)
N-Glycanase 1 (NGLY1) is a cytoplasmic deglycosylating enzyme. Loss-of-function mutations in the NGLY1 gene cause NGLY1 deficiency, which is characterized by developmental delay, seizures, and a lack of sweat and tears. To model the phenotypic variab
Externí odkaz:
https://doaj.org/article/b15615d75fd24af79e4e3c0481b7aa57
Autor:
Antonio Galeone, Joshua M Adams, Shinya Matsuda, Maximiliano F Presa, Ashutosh Pandey, Seung Yeop Han, Yuriko Tachida, Hiroto Hirayama, Thomas Vaccari, Tadashi Suzuki, Cathleen M Lutz, Markus Affolter, Aamir Zuberi, Hamed Jafar-Nejad
Publikováno v:
eLife, Vol 9 (2020)
During endoplasmic reticulum-associated degradation (ERAD), the cytoplasmic enzyme N-glycanase 1 (NGLY1) is proposed to remove N-glycans from misfolded N-glycoproteins after their retrotranslocation from the ER to the cytosol. We previously reported
Externí odkaz:
https://doaj.org/article/7f96a57cf41d4be982d6c1682f81ca7d
Autor:
Daniel Fil, Robbie L. Conley, Aamir R. Zuberi, Cathleen M. Lutz, Terry Gemelli, Marek Napierala, Jill S. Napierala
Publikováno v:
Neurobiology of Disease, Vol 177, Iss , Pp 105996- (2023)
Friedreich's ataxia (FRDA) is a neurodegenerative disease caused by reduced expression of the mitochondrial protein frataxin (FXN). Most FRDA patients are homozygous for large expansions of GAA repeats in intron 1 of FXN, while some are compound hete
Externí odkaz:
https://doaj.org/article/27a0bb7b0e1b457a91ff01f2e3b6068c
Autor:
Keith C. Cheng, Rebecca D. Burdine, Mary E. Dickinson, Stephen C. Ekker, Alex Y. Lin, K. C. Kent Lloyd, Cathleen M. Lutz, Calum A. MacRae, John H. Morrison, David H. O'Connor, John H. Postlethwait, Crystal D. Rogers, Susan Sanchez, Julie H. Simpson, William S. Talbot, Douglas C. Wallace, Jill M. Weimer, Hugo J. Bellen
Publikováno v:
Disease Models & Mechanisms, Vol 15, Iss 9 (2022)
Externí odkaz:
https://doaj.org/article/222ed46e51c14f58b45949b868d864dd
Autor:
Caroline J. Zeiss, Daniel M. Gatti, Olga Toro-Salazar, Crystal Davis, Cathleen M. Lutz, Francis Spinale, Timothy Stearns, Milena B. Furtado, Gary A. Churchill
Publikováno v:
G3: Genes, Genomes, Genetics, Vol 9, Iss 8, Pp 2637-2646 (2019)
Anthracyclines cause progressive cardiotoxicity whose ultimate severity is individual to the patient. Genetic determinants contributing to this variation are difficult to study using current mouse models. Our objective was to determine whether a spec
Externí odkaz:
https://doaj.org/article/fabbdfebe0ba4b8d96fa418a6dcfb938
Autor:
Marissa Dominick, Nicole Houchins, Vinisha Venugopal, Aamir R. Zuberi, Cathleen M. Lutz, Bessie Meechooveet, Kendall Van Keuren-Jensen, Robert Bowser, David X. Medina
Publikováno v:
Biochemical and Biophysical Research Communications. 645:164-172
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::5f6ac43206c0a73ca89cb366dccd986d
https://doi.org/10.1016/j.bbrc.2023.01.032
https://doi.org/10.1016/j.bbrc.2023.01.032
Autor:
Jone Lopez-Erauskin, Mariana Bravo-Hernandez, Maximiliano Presa, Michael W. Baughn, Ze’ev Melamed, Melinda S. Beccari, Ana Rita Agra de Almeida Quadros, Aamir Zuberi, Karen Ling, Oleksandr Platoshyn, Elkin Niño-Jara, I. Sandra Ndayambaje, Olatz Arnold-Garcia, Melissa McAlonis-Downes, Larissa Cabrera, Jonathan W. Artates, Jennifer Ryan, Frank Bennett, Paymaan Jafar-nejad, Frank Rigo, Martin Marsala, Cathleen M. Lutz, Don W. Cleveland, Clotilde Lagier-Tourenne
The human mRNA most affected by TDP-43 loss-of-function is transcribed from theSTMN2gene and encodes stathmin-2 (also known as SCG10), whose loss is a neurodegenerative disease hallmark. Here using multiplein vivoapproaches, including transient antis
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::a3fca87f97b78a3be286544a9b3838f6
https://doi.org/10.1101/2022.12.11.519794
https://doi.org/10.1101/2022.12.11.519794
Autor:
Jeanette M. Metzger, Yuyuan Wang, Samuel S. Neuman, Kathy J. Snow, Stephen A. Murray, Cathleen M. Lutz, Viktoriya Bondarenko, Jesi Felton, Kirstan Gimse, Ruosen Xie, Yi Zhao, Matthew T. Flowers, Heather A. Simmons, Subhojit Roy, Krishanu Saha, Jon Levine, Marina E. Emborg, Shaoqin Gong
Genome editing of somatic cells via clustered regularly interspaced short palindromic repeats (CRISPR) offers promise for new therapeutics to treat a variety of genetic disorders, including neurological diseases. However, the dense and complex parenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_________::3377092d36e7a30c1410b12546007251
https://doi.org/10.1101/2022.07.24.501299
https://doi.org/10.1101/2022.07.24.501299
Autor:
Jeanette M. Metzger, Yuyuan Wang, Samuel S. Neuman, Kathy J. Snow, Stephen A. Murray, Cathleen M. Lutz, Viktoriya Bondarenko, Jesi Felton, Kirstan Gimse, Ruosen Xie, Dongdong Li, Yi Zhao, Matthew T. Flowers, Heather A. Simmons, Subhojit Roy, Krishanu Saha, Jon E. Levine, Marina E. Emborg, Shaoqin Gong
Publikováno v:
Biomaterials. 293:121959
Genome editing of somatic cells via clustered regularly interspaced short palindromic repeats (CRISPR) offers promise for new therapeutics to treat a variety of genetic disorders, including neurological diseases. However, the dense and complex parenc
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::50617b23e383b862d7ecaa0315451751
https://doi.org/10.1016/j.biomaterials.2022.121959
https://doi.org/10.1016/j.biomaterials.2022.121959
Autor:
Robert W. Burgess, Maximiliano Presa, Hannah Wilpan, Cathleen M. Lutz, Crystal Davis, Laurent P. Bogdanik, Guy M. Lenk, Steven J. Gray, Randy Walls, Rachel M. Bailey, Jenn Cook, Tara Murphy
Publikováno v:
J Clin Invest
Charcot-Marie-Tooth disease type 4J (CMT4J) is caused by recessive, loss-of-function mutations in FIG4, encoding a phosphoinositol(3,5)P2-phosphatase. CMT4J patients have both neuron loss and demyelination in the peripheral nervous system, with vacuo
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::52ad55ebe75eeae207c5f584536ff9d1
https://doi.org/10.1172/jci137159
https://doi.org/10.1172/jci137159