Results 211 to 220 of about 1,943,814 (363)

Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes

Annals of Clinical and Translational Neurology, EarlyView.
Abstract Objective Several genetic loci known to confer risk for Parkinson's disease (PD) function in lysosomal pathways. We systematically screened common variants linked to PD risk by genome‐wide association studies (GWAS) for impact on cerebrospinal fluid (CSF) proteins reflecting lysosomal function.
Hanwen Zhang, Daniel Kargilis, Thomas Tropea, John Robinson, Junchao Shen, Eliza M. Brody, Ann Brinkmalm, Simon Sjödin, Adama J. Berndt, Marc Carceles‐Cordon, EunRan Suh, Vivianna M. Van Deerlin, Kaj Blennow, Daniel Weintraub, Edward B. Lee, Henrik Zetterberg, Alice S. Chen‐Plotkin   +16 more
wiley   +1 more source

UDP‐glucose dehydrogenase variants cause dystroglycanopathy

Annals of Clinical and Translational Neurology, EarlyView.
Abstract UDP‐glucose dehydrogenase (UGDH) variants have been associated with hypotonia, developmental delay, and epilepsy. We report the first pathologic evidence of dystroglycanopathy in siblings with UGDH variants. Both presented around 6 months with developmental delay and elevated creatinine kinase.
Anna M. Reelfs, Carrie M. Stephan, Theresa M. Czech, Mary O. Cox, Soumya Joseph, Benjamin W. Darbro, Steven A. Moore, Kevin P. Campbell, Katherine D. Mathews   +8 more
wiley   +1 more source

Novel Phenotypes and Deep Intronic Variant Expand TH‐Associated Dopa‐Responsive Dystonia Spectrum

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Approximately 20% of dopa‐responsive dystonia (DRD) cases remain genetically unresolved. Using whole‐genome sequencing, we identified two TH variants in a young DRD patient, including a novel deep intronic variant. Minigene assays confirmed that this variant causes aberrant splicing.
Xiaosheng Zheng, Chenxin Ying, Nan Jin, Jinghong Ma, Xinhua Wan, Xunhua Li, Wei Luo   +6 more
wiley   +1 more source

Clinical and Imaging Features of Sporadic and Genetic Frontotemporal Lobar Degeneration TDP‐43 A and B

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Certain frontotemporal lobar degeneration subtypes, including TDP‐A and B, can either occur sporadically or in association with specific genetic mutations. It is uncertain whether syndromic or imaging features previously associated with these patient groups are subtype or genotype specific.
Sean Coulborn, Rhiana Schafer, Ashlin R. K. Roy, Andrzej Sokolowski, Noah G. Cryns, Dana Leichter, Argentina Lario Lago, Eliana Marisa Ramos, Yann Cobigo, Salvatore Spina, Lea T. Grinberg, Daniel H. Geschwind, Maria L. Gorno‐Tempini, Joel H. Kramer, Howard J. Rosen, Bruce L. Miller, William W. Seeley, David C. Perry   +17 more
wiley   +1 more source

Fitness functions for RNA structure design. [PDF]

Nucleic Acids Res, 2023
Ward M, Courtney E, Rivas E.
europepmc   +1 more source

Effect of Degradation of Rat‐Liver Ribosomal RNA on the Structure of the Ribosomal Subunits [PDF]

, 1972
Piroska Hüvös, Ö. Gaál, L. Vereczkey
openalex   +1 more source

Reconstitution of CXCR3+ CCR6+ Th17.1‐Like T Cells in Response to Ofatumumab Therapy in Patients With Multiple Sclerosis

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Background and Objectives Ofatumumab, a fully human anti‐CD20 monoclonal antibody, is effective in reducing relapses and disability progression in patients with multiple sclerosis. This study aimed to examine immune profile changes associated with ofatumumab in a prospective cohort of Chinese patients with relapsing–remitting multiple ...
Shu Yang, Tian‐Xiang Zhang, Jia Liu, Zhirui Liu, Lijie Zhu, Yan‐Yan Li, Bin Feng, Moli Fan, Fu‐Dong Shi, Chao Zhang   +9 more
wiley   +1 more source

A CRISPR mis-insertion in the Zic3 5′UTR inhibits in vivo translation and is predicted to result in formation of an mRNA stem-loop hairpin

Biology Open
Helen M. Bellchambers, Maria B. Padua, Stephanie M. Ware   +2 more
doaj   +1 more source

Transformers in RNA structure prediction: A review. [PDF]

Comput Struct Biotechnol J
Chaturvedi M, Rashid MA, Paliwal KK.
europepmc   +1 more source

The structure of the RNA binding site of ribosomal proteins S8 and S15.

, 1979
Rachel Müller, R.A. Garrett, Harry F. Noller   +2 more
openalex   +1 more source