[HTML][HTML] The pathobiology of TDP-43 C-terminal fragments in ALS and FTLD

BA Berning, AK Walker - Frontiers in neuroscience, 2019 - frontiersin.org
During neurodegenerative disease, the multifunctional RNA-binding protein TDP-43
undergoes a vast array of post-translational modifications, including phosphorylation …

The genetics and neuropathology of frontotemporal lobar degeneration

A Sieben, T Van Langenhove, S Engelborghs… - Acta …, 2012 - Springer
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders
characterized by disturbances of behavior and personality and different types of language …

The two faces of protein misfolding: gain‐and loss‐of‐function in neurodegenerative diseases

KF Winklhofer, J Tatzelt, C Haass - The EMBO journal, 2008 - embopress.org
The etiologies of neurodegenerative diseases may be diverse; however, a common
pathological denominator is the formation of aberrant protein conformers and the occurrence …

Progranulin functions as a neurotrophic factor to regulate neurite outgrowth and enhance neuronal survival

P Van Damme, A Van Hoecke, D Lambrechts… - The Journal of cell …, 2008 - rupress.org
Recently, mutations in the progranulin (PGRN) gene were found to cause familial and
apparently sporadic frontotemporal lobe dementia (FTLD). Moreover, missense changes in …

The granulin gene family: from cancer to dementia

A Bateman, HPJ Bennett - Bioessays, 2009 - Wiley Online Library
The growth factor progranulin (PGRN) regulates cell division, survival, and migration. PGRN
is an extracellular glycoprotein bearing multiple copies of the cysteine‐rich granulin motif …

Phenotype variability in progranulin mutation carriers: a clinical, neuropsychological, imaging and genetic study

I Le Ber, A Camuzat, D Hannequin, F Pasquier… - Brain, 2008 - academic.oup.com
Frontotemporal dementia (FTD), characterized by behavioural and language disorders, is a
clinically, genetically and pathologically heterogeneous group of diseases. The most …

Low plasma progranulin levels predict progranulin mutations in frontotemporal lobar degeneration

R Ghidoni, L Benussi, M Glionna, M Franzoni… - Neurology, 2008 - AAN Enterprises
Background: Mutations in the progranulin gene (PGRN) were identified as the causal
mechanism underlying frontotemporal lobar degeneration (FTLD). Most of these mutations …

Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis

JK Götzl, K Mori, M Damme, K Fellerer, S Tahirovic… - Acta …, 2014 - Springer
Heterozygous loss-of-function mutations in the progranulin (GRN) gene and the resulting
reduction of GRN levels is a common genetic cause for frontotemporal lobar degeneration …

Genetic contribution of FUS to frontotemporal lobar degeneration

T Van Langenhove, J Van Der Zee, K Sleegers… - Neurology, 2010 - AAN Enterprises
Background: Recently, the FUS gene was identified as a new causal gene for amyotrophic
lateral sclerosis (ALS) in∼ 4% of patients with familial ALS. Since ALS and frontotemporal …

Molecular genetics of Alzheimer's disease: an update

N Brouwers, K Sleegers, C Van Broeckhoven - Annals of medicine, 2008 - Taylor & Francis
Alzheimer's disease (AD) is a complex disorder of the central nervous system (CNS).
Molecular genetic research has provided a wealth of information regarding the genetic …