Results 211 to 220 of about 2,844,917 (353)

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

Amino Acid Properties, Substitution Rates, and the Nearly Neutral Theory. [PDF]

Genome Biol Evol
James JE, Lascoux M.
europepmc   +1 more source

The Effect of Amino Acids upon the Absorption of Iron (II. Report)

, 1953
Humihide Matsui
openalex   +2 more sources

THE INFRARED SPECTRA OF SOME DNP-α-AMINO ACIDS [PDF]

, 1959
Felix Friedberg, M. S. Odell
openalex   +1 more source

Associations of Cerebrospinal Fluid Orexin‐A, Alzheimer Disease Biomarkers, and Cognitive Performance

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACTObjectiveCerebrospinal fluid (CSF) orexin‐A has been suggested to be a biomarker of Alzheimer disease (AD). In both cognitively unimpaired healthy older adults and individuals with symptomatic AD, CSF orexin‐A is positively associated with CSF Aβ42, p‐tau181, and total tau (t‐tau) concentrations.
Ruijin Lu, Krish Shah, Cristina D. Toedebusch, Ashley Hess, Rachel Richardson, Emmanuel Mignot, Suzanne E. Schindler, Tammie L. S. Benzinger, Shaney Flores, Jason Hassenstab, Chengjie Xiong, John C. Morris, David M. Holtzman, Brendan P. Lucey   +13 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

ESM-scan-A tool to guide amino acid substitutions. [PDF]

Protein Sci
Totaro MG, Vide U, Zausinger R, Winkler A, Oberdorfer G.   +4 more
europepmc   +1 more source

On Proteins and Amino Acids

, 1954
Hajime Masamune, Sen‐itiroh Hakomori, Osamu Masamune   +2 more
openalex   +2 more sources

Microbiological Determinations of Amino Acids in Foodstuffs. III. [PDF]

, 1952
Gunnar Ågren, Alfons Misiorny, Å. Åkerström, Ernst Finsnes, Jörgine Stene Sörensen, Nils Andreas Sörensen   +5 more
openalex   +1 more source

Epitope Mapping of Anti‐Neurofascin 155 Antibody in a Large Cohort of Autoimmune Nodopathy Patients

Annals of Clinical and Translational Neurology, EarlyView.
ABSTRACT Objective Autoimmune nodopathy (AN), a newly recognized disease entity, is an immune‐mediated polyneuropathy involving autoantibodies against cell adhesion molecules located in nodes of Ranvier and paranodal regions, such as neurofascin 186 (NF186) and neurofascin 155 (NF155). The present study aimed to identify the epitopes for autoantibodies
Amina A. Abdelhadi, Hidenori Ogata, Xu Zhang, Takumi Tashiro, Ryo Yamasaki, Jun‐ichi Kira, Noriko Isobe   +6 more
wiley   +1 more source