Calcium modulating ligand confers risk for Parkinson's disease and impacts lysosomes
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
Gene mapping and candidate gene analysis of a sorghum sheathed panicle-I mutant. [PDF]
Ao J+9 more
europepmc +1 more source
Relationship of cognitive decline with glucocerebrosidase activity and amyloid‐beta 42 in DLB and PD
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
Transcriptomic analysis reveals the participation of NTRC in iron homeostasis in Arabidopsis. [PDF]
Rodríguez-Marín F+2 more
europepmc +1 more source
Assessment of concurrent neoplasms and a paraneoplastic association in MOGAD
Abstract Cases of myelin oligodendrocyte glycoprotein (MOG) antibody‐associated disease (MOGAD) co‐occurring with neoplasms have been reported. In this international, retrospective cohort study in South Korea and the USA, 16 of 445 (3.6%) patients with MOGAD had concurrent neoplasm within 2 years of MOGAD onset, resulting in a standardized incidence ...
Young Nam Kwon+24 more
wiley +1 more source
Autism-like atypical face processing in <i>Shank3</i> mutant dogs. [PDF]
Yuan S+7 more
europepmc +1 more source
Heterozygous variants in AP4S1 are not associated with a neurological phenotype
Abstract Biallelic loss‐of‐function variants in AP4S1 cause childhood‐onset hereditary spastic paraplegia. A recent report suggested that heterozygous AP4S1 variants lead to a syndrome of lower limb spasticity and dysregulation of sphincter function. We critically evaluate this claim against clinical observations in 28 heterozygous carriers of the same
Vicente Quiroz+9 more
wiley +1 more source
The Multi-Pistil Phenomenon in Higher Plants. [PDF]
Chai L+10 more
europepmc +1 more source
Skin calcium deposits in primary familial brain calcification: A novel potential biomarker
Abstract Objective Primary Familial Brain Calcification (PFBC) is a rare neurodegenerative disorder characterized by small vessel calcifications in the basal ganglia. PFBC is caused by pathogenic variants in different genes and its physiopathology is still largely unknown. Skin vascular calcifications have been detected in single PFBC cases, suggesting
Aron Emmi+8 more
wiley +1 more source
Recent advances in therapeutic strategies for non-small cell lung cancer. [PDF]
Su PL+6 more
europepmc +1 more source