Zobrazeno 1 - 10
of 264
pro vyhledávání: '"Steven S Scherer"'
Autor:
Sunetra Sase, Akshata A Almad, C Alexander Boecker, Pedro Guedes-Dias, Jian J Li, Asako Takanohashi, Akshilkumar Patel, Tara McCaffrey, Heta Patel, Divya Sirdeshpande, Julian Curiel, Judy Shih-Hwa Liu, Quasar Padiath, Erika LF Holzbaur, Steven S Scherer, Adeline Vanderver
Publikováno v:
eLife, Vol 9 (2020)
Mutations in TUBB4A result in a spectrum of leukodystrophy including Hypomyelination with Atrophy of Basal Ganglia and Cerebellum (H-ABC), a rare hypomyelinating leukodystrophy, often associated with a recurring variant p.Asp249Asn (D249N). We have d
Externí odkaz:
https://doaj.org/article/d63c220dcb804fd689ffcb48f6975f30
Autor:
Laynie Dratch, Tanya M. Bardakjian, Kelsey Johnson, Nareen Babaian, Pedro Gonzalez-Alegre, Lauren Elman, Colin Quinn, Michael H. Guo, Steven S. Scherer, Defne A. Amado
Publikováno v:
Biology, Vol 13, Iss 2, p 93 (2024)
Advances in gene-specific therapeutics for patients with neuromuscular disorders (NMDs) have brought increased attention to the importance of genetic diagnosis. Genetic testing practices vary among adult neuromuscular clinics, with multi-gene panel t
Externí odkaz:
https://doaj.org/article/10e85a1fa617400bbfe8c2f15de2799c
Autor:
Matilde Malcorps, Silvia Amor-Barris, Birute Burnyte, Ramune Vilimiene, Camila Armirola-Ricaurte, Kristina Grigalioniene, Alexandra Ekshteyn, Ausra Morkuniene, Arunas Vaitkevicius, Els De Vriendt, Jonathan Baets, Steven S. Scherer, Laima Ambrozaityte, Algirdas Utkus, Albena Jordanova, Kristien Peeters
Publikováno v:
Orphanet Journal of Rare Diseases, Vol 17, Iss 1, Pp 1-11 (2022)
Abstract Background Recessive loss-of-function variations in HINT1 cause a peculiar subtype of Charcot-Marie-Tooth disease: neuromyotonia and axonal neuropathy (NMAN; OMIM[#137200]). With 25 causal variants identified worldwide, HINT1 mutations are a
Externí odkaz:
https://doaj.org/article/b4607f9f7eb949f7be4eff8b58b7b82a
Autor:
Katy Eichinger, Janet E. Sowden, Joshua Burns, Michael P. McDermott, Jeffrey Krischer, John Thornton, Davide Pareyson, Steven S. Scherer, Michael E. Shy, Mary M. Reilly, David N. Herrmann
Publikováno v:
Frontiers in Neurology, Vol 13 (2022)
With therapeutic trials on the horizon for Charcot-Marie-Tooth type 1A (CMT1A), reliable, valid, and responsive clinical outcome assessments and biomarkers are essential. Accelerate Clinical Trials in CMT (ACT-CMT) is an international study designed
Externí odkaz:
https://doaj.org/article/d46dcb0d9ea4402aa80c7dfef06a61b5
Autor:
Heather S. Hain, Rahul Pandey, Marina Bakay, Bryan P. Strenkowski, Danielle Harrington, Micah Romer, William W. Motley, Jian Li, Eunjoo Lancaster, Lindsay Roth, Judith B. Grinspan, Steven S. Scherer, Hakon Hakonarson
Publikováno v:
Scientific Reports, Vol 11, Iss 1, Pp 1-14 (2021)
Abstract CLEC16A has been shown to play a role in autophagy/mitophagy processes. Additionally, genetic variants in CLEC16A have been implicated in multiple autoimmune diseases. We generated an inducible whole-body knockout, Clec16a ΔUBC mice, to inv
Externí odkaz:
https://doaj.org/article/9b104a7aa9a7427988082d3423e2cc80
Autor:
Melanie Meister-Broekema, Rebecca Freilich, Chandhuru Jagadeesan, Jennifer N. Rauch, Rocio Bengoechea, William W. Motley, E. F. Elsiena Kuiper, Melania Minoia, Gabriel V. Furtado, Maria A. W. H. van Waarde, Shawn J. Bird, Adriana Rebelo, Stephan Zuchner, Peter Pytel, Steven S. Scherer, Federica F. Morelli, Serena Carra, Conrad C. Weihl, Steven Bergink, Jason E. Gestwicki, Harm H. Kampinga
Publikováno v:
Nature Communications, Vol 9, Iss 1, Pp 1-14 (2018)
BAG3 is a Hsp70 co-chaperone that is highly expressed in muscles. Here the authors show that several myofibrillar myopathy causing BAG3 mutations are not impaired in Hsp70 binding, but rather impair the ADP-ATP exchange step of the Hsp70 cycle, causi
Externí odkaz:
https://doaj.org/article/ddf05b7beeda41dab42d91cc0f57bb70
Autor:
Mary M. Reilly, David N. Herrmann, Davide Pareyson, Steven S. Scherer, Richard S. Finkel, Stephan Züchner, Joshua Burns, Michael E. Shy
Publikováno v:
Annals of Neurology. 93:906-910
Autor:
Jian J. Li, Nicolas Sarute, Eunjoo Lancaster, Guliz Otkiran-Clare, Bani Medegan Fagla, Susan R. Ross, Steven S. Scherer
Publikováno v:
Neurobiology of Disease, Vol 140, Iss , Pp 104845- (2020)
We analyzed Trim2A/A mice, generated by CRISPR-Cas9, which have a recessive, null mutation of Trim2. Trim2A/A mice develop ataxia that is associated with a severe loss of cerebellar Purkinje cells and a peripheral neuropathy. Myelinated axons in the
Externí odkaz:
https://doaj.org/article/8233e74044f143e8b9254a27e95ee693
Autor:
Vera, Fridman, Stefan, Sillau, Jacob, Bockhorst, Kaitlin, Smith, Isabella, Moroni, Emanuela, Pagliano, Chiara, Pisciotta, Guiseppe, Piscosquito, Matilde, Laurá, Francesco, Muntoni, Chelsea, Bacon, Shawna, Feely, Tiffany, Grider, Laurie, Gutmann, Rosemary, Shy, Janel, Wilcox, David N, Herrmann, Jun, Li, Sindhu, Ramchandren, Charlotte J, Sumner, Thomas E, Lloyd, John, Day, Carly E, Siskind, Sabrina W, Yum, Reza, Sadjadi, Richard S, Finkel, Steven S, Scherer, Davide, Pareyson, Mary M, Reilly, Michael E, Shy
Publikováno v:
Annals of Neurology. 93:563-576
The paucity of longitudinal natural history studies in MPZ neuropathy remains a barrier to clinical trials. We have completed a longitudinal natural history study in patients with MPZ neuropathies across 13 sites of the Inherited Neuropathies Consort
Autor:
John W. McLean, Julie A. Wilson, Tina Tian, Jennifer A. Watson, Mary VanHart, Andrew J. Bean, Steven S. Scherer, David K. Crossman, Eroboghene Ubogu, Scott M. Wilson
Publikováno v:
J Neurosci
Endosomal sorting plays a fundamental role in directing neural development. By altering the temporal and spatial distribution of membrane receptors, endosomes regulate signaling pathways that control the differentiation and function of neural cells.