Mutation of the Zinc-Binding Metalloprotease Motif AffectsBacteroides fragilisToxin Activity but Does Not Affect Propeptide Processing [PDF]
, 2005 Augusto A. Franco +4 more
openalex +1 more source
Suppressor Mutations in the Transmembrane Segments of P-glycoprotein Promote Maturation of Processing Mutants and Disrupt a Subset of Drug-binding Sites [PDF]
, 2007 Tip W. Loo +2 more
openalex +1 more source
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 +16 more
wiley +1 more source
Novel Proteolytic Processing of the Ectodomain of the Zinc Transporter ZIP4 (SLC39A4) during Zinc Deficiency Is Inhibited by Acrodermatitis Enteropathica Mutations [PDF]
, 2008 Taiho Kambe, Glen K. Andrews
openalex +1 more source
Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD
Annals of Clinical and Translational Neurology, EarlyView.Abstract Objective Dementia with Lewy bodies (DLB) and Parkinson's disease (PD) share clinical, pathological, and genetic risk factors, including GBA1 and APOEε4 mutations. Biomarkers associated with the pathways of these mutations, such as glucocerebrosidase enzyme (GCase) activity and amyloid‐beta 42 (Aβ42) levels, may hold potential as predictive ...
Maria Camila Gonzalez +15 more
wiley +1 more source
Mutations That Increase DNA Binding by the Processivity Factor of Herpes Simplex Virus Affect Virus Production and DNA Replication Fidelity [PDF]
, 2009 Changying Jiang +4 more
openalex +1 more source
Progressive Myoclonus Epilepsy: Distinctive MRI Changes in Cerebellar and Motor Networks
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Progressive myoclonus epilepsy (PME) is a rare generalized epilepsy syndrome with a well‐characterized genetic basis. The brain networks that are affected to give rise to the distinctive symptoms of PME are less well understood. Methods Eleven individuals with PME with a confirmed genetic diagnosis and 22 controls were studied.
Jillian M. Cameron +3 more
wiley +1 more source
mSphere of Influence: Considering Complex Mutational Processes That Shape Microbial Virulence. [PDF]
mSphere, 2019 Anderson MZ.
europepmc +1 more source
Early Language Impairment as an Integral Part of the Cognitive Phenotype in Huntington's Disease
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT Objective Huntington's disease (HD) speech/language disorders have typically been attributed to motor and executive impairment due to striatal dysfunction. In‐depth study of linguistic skills and the role of extrastriatal structures in HD is scarce.
Arnau Puig‐Davi +13 more
wiley +1 more source
Annals of Clinical and Translational Neurology, EarlyView.ABSTRACT C‐truncating variants in the charged multivesicular body protein 2B (CHMP2B) gene are a rare cause of frontotemporal lobar degeneration (FTLD), previously identified only in Denmark, Belgium, and China. We report a novel CHMP2B splice‐site variant (c.35‐1G>A) associated with familial FTLD in Spain. The cases were two monozygotic male twins who
Sara Rubio‐Guerra +17 more
wiley +1 more source