Results 111 to 120 of about 22,079 (225)
Accumulating evidence suggests that misfolded MAPT (microtubule associated protein tau), the main component of neurofibrillary tangles in tauopathies, is subject to degradation by the autophagy-lysosomal pathway.
Hui Zheng (58412) +2 more
core +1 more source
Abstract INTRODUCTION Age‐related cognitive decline and Alzheimer's disease (AD) are strongly influenced by lipid metabolism, yet how central and peripheral lipid profiles relate to disease risk before symptom onset remains unclear. METHODS We performed comprehensive shotgun lipidomics in cerebrospinal fluid (CSF) and plasma from cognitively unimpaired
Takahisa Kanekiyo +18 more
wiley +1 more source
MAPT Families Fighting for a Future
AbstractBackgroundFrontotemporal dementia is the most common form of dementia impacting those under the age of 60. It is estimated that 30% of affected persons have a genetic predisposition to this disease, with mutations in the genes encoding progranulin (GRN), chromosome 9 open reading frame 72(C9orf72), and microtubule associated protein tau (MAPT).
openaire +1 more source
Phase 3 randomized trial of latozinemab in frontotemporal dementia due to GRN mutations
Abstract INTRODUCTION Heterozygous progranulin gene mutations causing frontotemporal dementia (FTD‐GRN) are associated with deficiency in progranulin (PGRN). Latozinemab is a human monoclonal immunoglobulin G1 (IgG1) antibody designed to elevate PGRN levels in people with heterozygous loss‐of‐function (LOF) GRN mutations.
Adam Simmons +30 more
wiley +1 more source
Brains for dementia research at 18: Commitment to impact the value of human post‐mortem tissue
Abstract The Brains for Dementia Research (BDR) project was established to provide high quality, neuropathologically characterized post‐mortem brain tissue from a cohort of participants longitudinally assessed for outcomes that are relevant for research in relation to dementia.
Keeley J. Brookes +18 more
wiley +1 more source
IntroductionParkinson’s disease (PD) is a neurodegenerative disorder characterized by motor symptoms such as bradykinesia, rigidity, and tremor. Despite its prevalence, genetic and epigenetic studies in the Mexican Mestizo population (individuals of ...
Ernesto G. Miranda-Morales +12 more
doaj +1 more source
Distribution of Big Tau Isoforms in the Human Central and Peripheral Nervous System
Objective Tau is widely studied in neurodegeneration, yet most work has focused on canonical brain tau isoforms. A longer isoform, “big tau,” produced by inclusion of exon 4a, is expressed in the peripheral nervous system (PNS) and central nervous system (CNS) regions.
Rama Krishna Koppisetti +17 more
wiley +1 more source
Background: Breast cancer is the second top mortality of women globally. A major difficulty in therapeutic therapy is the disease's heterogeneity. However, modern discoveries in molecular biology and immunology have made it possible to create highly focused medicines for a variety of breast tumor subtypes.
Asma Jan, Shazia Sofi, Manzoor Ahmad Mir
openaire +2 more sources
ABSTRACT Biallelic CHCHD2 variants are rare. We report a consanguineous man with a novel homozygous CHCHD2 c.395A>T (p.Lys132Met) variant who developed progressive cognitive decline, apraxia, oculomotor impairment, and pyramidal signs without parkinsonism.
Mehri Salari +3 more
wiley +1 more source
Microtubule-associated protein Tau (MAPT) is strongly associated with the development of neurodegenerative diseases. In addition to driving the formation of neurofibrillary tangles (NFT), mutations in the MAPT gene can also cause oxidative stress through
Xanthe Bradford +2 more
doaj +1 more source

