[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 …
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 …
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 …
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 …
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 …
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 …
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 …
mechanism underlying frontotemporal lobar degeneration (FTLD). Most of these mutations …
Common pathobiochemical hallmarks of progranulin-associated frontotemporal lobar degeneration and neuronal ceroid lipofuscinosis
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 …
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 …
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 …
Molecular genetic research has provided a wealth of information regarding the genetic …