Results 261 to 270 of about 3,840,867 (319)

Compound Heterozygous MRPS14 Variants Associated With Leigh Syndrome

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT MRPS14 (uS14m) is a nuclear‐encoded ribosomal protein important for mitochondria‐specific translation. To date, only a single individual with a recessive MRPS14‐related disorder (also known as COXPD38) has been reported. We report an additional subject possessing novel compound heterozygous MRPS14 variants (p.Asp37Asn, p.Asn60Asp). The subject
Maria Gabriela Otero, Christina Freeman, Ruchi Shah, Renkui Bai, Hong Cui, Marian Castro, Zachary Myers, Eric Choy, Derek Chan, Molly Easter, Sophia Y. Zhao, Madeline Babros, Ruchi Garg, Matthew Deardorff, Franklin Moser, Tyler Mark Pierson   +15 more
wiley   +1 more source

Efficient protein structure archiving using ProteStAr. [PDF]

Bioinformatics
Deorowicz S, Gudyś A.
europepmc   +1 more source

Myostatin Levels in SMA Following Disease‐Modifying Treatments: A Multi‐Center Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective This study investigated myostatin levels in SMA patients receiving disease‐modifying therapies (DMTs) to understand their relationship with treatment duration and functional status. Methods Our study includes both cross‐sectional and longitudinal analyses of myostatin levels in treated SMA patients.
Fiorella Piemonte, Sara Petrillo, Anna Capasso, Giorgia Coratti, Adele D'Amico, Michela Catteruccia, Maria Carmela Pera, Concetta Palermo, Marika Pane, Emanuela Abiusi, Gianpaolo Cicala, Marianna Villa, Chiara Bravetti, Chiara Arpaia, Agnese Novelli, Salvatore Falqui, Stefania Fiori, Giulia Napoli, Silvia Baroni, Francesco Danilo Tiziano, Enrico Bertini, Giacomo Comi, Stefania Corti, Eugenio Mercuri   +23 more
wiley   +1 more source

Viro3D: a comprehensive database of virus protein structure predictions

Litvin U, Lytras S, Jack A, Robertson DL, Grove J, Hughes J.   +5 more
europepmc   +1 more source

Computer-Aided Discovery of Natural Compounds Targeting the ADAR2 dsRBD2-RNA Interface and Computational Modeling of Full-Length ADAR2 Protein Structure. [PDF]

Int J Mol Sci
Ashley CN, Broni E, Pena-Martinez M, Wood CM, Kwofie SK, Miller WA.   +5 more
europepmc   +1 more source

The Impact of Diabetes and Metabolic Syndrome Burden on Pain, Neuropathy Severity and Fiber Type

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Determine the association between diabetes and metabolic syndrome (MetS) burden (number of MetS criteria fulfilled) and pain, neuropathy severity, and fiber type involvement in individuals with established polyneuropathy. Methods The Peripheral Neuropathy Research Registry was queried for individuals with type 1 and type 2 diabetes ...
Long Davalos, Brian C. Callaghan, Lavanya Muthukumar, Simone Thomas, Evan L. Reynolds, A. Gordon Smith, J. Robinson Singleton, Ahmet Höke, Senda Ajroud‐Driss, Mazen M. Dimachkie, Stefanie Geisler, David M. Simpson, PNRR Study Group, Amro M. Stino   +13 more
wiley   +1 more source

Protein Structure Inspired Discovery of a Novel Inducer of Anoikis in Human Melanoma. [PDF]

Cancers (Basel)
Qiao F, Binkowski TA, Broughan I, Chen W, Natarajan A, Schiltz GE, Scheidt KA, Anderson WF, Bergan R.   +8 more
europepmc   +1 more source

SARS‐CoV‐2 Is Linked to Brain Volume Loss in Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective The impact of SARS‐CoV‐2 infection on brain and spinal cord pathology in patients with multiple sclerosis (pwMS) remains unclear. We aimed to describe changes in brain lesion activity and brain and spinal cord volumes following SARS‐CoV‐2 infection.
Tomas Uher, Dominika Stastna, Ingrid Menkyova, Vaclav Capek, Jiri Lindner, Petra Nytrova, Jan Krasensky, Eliza Varju, Miguel D'haeseleer, Eva Kubala Havrdova, Dana Horakova, Manuela Vaneckova, Niels Bergsland   +12 more
wiley   +1 more source

AI-Driven Deep Learning Techniques in Protein Structure Prediction. [PDF]

Int J Mol Sci
Chen L, Li Q, Nasif KFA, Xie Y, Deng B, Niu S, Pouriyeh S, Dai Z, Chen J, Xie CY.   +9 more
europepmc   +1 more source

Factors for Rituximab Refractoriness in AQP4‐IgG+ NMOSD: A Cohort Study

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Neuromyelitis optica spectrum disorder (NMOSD) is a severe autoimmune condition of the central nervous system (CNS), often associated with aquaporin‐4 antibodies (AQP4‐IgG). Rituximab, a CD20+ B‐cell depleting monoclonal antibody, is widely used as first‐line therapy.
Mariano Marrodan, María A. Piedrabuena, María A. Zarate, Sofía Rodríguez Murúa, Ezequiel I. Surace, Mauricio F. Farez, Marcela P. Fiol, María C. Ysrraelit, Jorge Correale   +8 more
wiley   +1 more source