Amyotrophic lateral sclerosis

MA Van Es, O Hardiman, A Chio, A Al-Chalabi… - The Lancet, 2017 - thelancet.com
Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in the
brain and spinal cord. This neurodegenerative syndrome shares pathobiological features …

Protein aggregation in amyotrophic lateral sclerosis

AM Blokhuis, EJN Groen, M Koppers… - Acta …, 2013 - Springer
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
aggregation of ubiquitinated proteins in affected motor neurons. Recent studies have identified …

Getting neural circuits into shape with semaphorins

RJ Pasterkamp - Nature Reviews Neuroscience, 2012 - nature.com
Semaphorins are key players in the control of neural circuit development. Recent studies
have uncovered several exciting and novel aspects of neuronal semaphorin signalling in …

Haploinsufficiency leads to neurodegeneration in C9ORF72 ALS/FTD human induced motor neurons

Y Shi, S Lin, KA Staats, Y Li, WH Chang, ST Hung… - Nature medicine, 2018 - nature.com
An intronic GGGGCC repeat expansion in C9ORF72 is the most common cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), but the pathogenic …

Microglia innately develop within cerebral organoids

PR Ormel, R Vieira de Sá, EJ Van Bodegraven… - Nature …, 2018 - nature.com
Cerebral organoids are 3D stem cell-derived models that can be utilized to study the human
brain. The current consensus is that cerebral organoids consist of cells derived from the …

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

MA Van Es, JH Veldink, CGJ Saris, HM Blauw… - Nature …, 2009 - nature.com
We conducted a genome-wide association study among 2,323 individuals with sporadic
amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with P < …

Expression of the gene encoding the chemorepellent semaphorin III is induced in the fibroblast component of neural scar tissue formed following injuries of adult but …

RJ Pasterkamp, RJ Giger, MJ Ruitenberg… - Molecular and Cellular …, 1999 - Elsevier
This study evaluates the expression of the chemorepellent semaphorin III (D)/collapsin-1 (sema
III) following lesions to the rat CNS. Scar tissue, formed after penetrating injuries to the …

Semaphorin signaling: progress made and promises ahead

Y Zhou, RAF Gunput, RJ Pasterkamp - Trends in biochemical sciences, 2008 - cell.com
Semaphorins were initially characterized according to their role in repulsive axon guidance
but are now recognized as crucial regulators of morphogenesis and homeostasis over a …

MICALs, a family of conserved flavoprotein oxidoreductases, function in plexin-mediated axonal repulsion

JR Terman, T Mao, RJ Pasterkamp, HH Yu… - Cell, 2002 - cell.com
Members of the semaphorin family of secreted and transmembrane proteins utilize plexins
as neuronal receptors to signal repulsive axon guidance. It remains unknown how plexin …

Semaphorin junction: making tracks toward neural connectivity

RJ Pasterkamp, AL Kolodkin - Current opinion in neurobiology, 2003 - Elsevier
Semaphorins constitute one of the largest families of repulsive and attractive growth cone
guidance proteins. They affect the growth cone’s actin cytoskeleton through interactions with …