Cellular functions of the protein kinase ATM and their relevance to human disease
The protein kinase ataxia telangiectasia mutated (ATM) is a master regulator of double-
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …
strand DNA break (DSB) signalling and stress responses. For three decades, ATM has been …
CRISPR-based functional genomics for neurological disease
M Kampmann - Nature Reviews Neurology, 2020 - nature.com
Neurodegenerative, neurodevelopmental and neuropsychiatric disorders are among the
greatest public health challenges, as many lack disease-modifying treatments. A major …
greatest public health challenges, as many lack disease-modifying treatments. A major …
Generation of functional human 3D cortico-motor assembloids
Neurons in the cerebral cortex connect through descending pathways to hindbrain and
spinal cord to activate muscle and generate movement. Although components of this …
spinal cord to activate muscle and generate movement. Although components of this …
[HTML][HTML] Neurodegenerative disease: models, mechanisms, and a new hope
Neurodegeneration is a feature of many debilitating, incurable diseases that are rapidly
rising in prevalence, such as Parkinson's disease. There is an urgent need to develop new …
rising in prevalence, such as Parkinson's disease. There is an urgent need to develop new …
ALS-implicated protein TDP-43 sustains levels of STMN2, a mediator of motor neuron growth and repair
JR Klim, LA Williams, F Limone… - Nature …, 2019 - nature.com
The findings that amyotrophic lateral sclerosis (ALS) patients almost universally display
pathological mislocalization of the RNA-binding protein TDP-43 and that mutations in its …
pathological mislocalization of the RNA-binding protein TDP-43 and that mutations in its …
GGGGCC repeat expansion in C9orf72 compromises nucleocytoplasmic transport
Abstract The GGGGCC (G4C2) repeat expansion in a noncoding region of C9orf72 is the
most common cause of sporadic and familial forms of amyotrophic lateral sclerosis and …
most common cause of sporadic and familial forms of amyotrophic lateral sclerosis and …
[HTML][HTML] Rapid single-step induction of functional neurons from human pluripotent stem cells
Available methods for differentiating human embryonic stem cells (ESCs) and induced
pluripotent cells (iPSCs) into neurons are often cumbersome, slow, and variable …
pluripotent cells (iPSCs) into neurons are often cumbersome, slow, and variable …
Generation and expansion of highly pure motor neuron progenitors from human pluripotent stem cells
ZW Du, H Chen, H Liu, J Lu, K Qian, CTL Huang… - Nature …, 2015 - nature.com
Human pluripotent stem cells (hPSCs) have opened new opportunities for understanding
human development, modelling disease processes and developing new therapeutics …
human development, modelling disease processes and developing new therapeutics …
[HTML][HTML] Pyramidal neurons derived from human pluripotent stem cells integrate efficiently into mouse brain circuits in vivo
I Espuny-Camacho, KA Michelsen, D Gall, D Linaro… - Neuron, 2013 - cell.com
The study of human cortical development has major implications for brain evolution and
diseases but has remained elusive due to paucity of experimental models. Here we found …
diseases but has remained elusive due to paucity of experimental models. Here we found …
Generation of induced neuronal cells by the single reprogramming factor ASCL1
Direct conversion of nonneural cells to functional neurons holds great promise for
neurological disease modeling and regenerative medicine. We previously reported rapid …
neurological disease modeling and regenerative medicine. We previously reported rapid …