Blood-brain barrier: from physiology to disease and back

MD Sweeney, Z Zhao, A Montagne… - Physiological …, 2019 - journals.physiology.org
The blood-brain barrier (BBB) prevents neurotoxic plasma components, blood cells, and
pathogens from entering the brain. At the same time, the BBB regulates transport of …

Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation

RJ Mead, N Shan, HJ Reiser, F Marshall… - Nature Reviews Drug …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …

Decoding ALS: from genes to mechanism

JP Taylor, RH Brown Jr, DW Cleveland - Nature, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …

ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

Amyotrophic lateral sclerosis

RH Brown, A Al-Chalabi - New England Journal of Medicine, 2017 - Mass Medical Soc
Amyotrophic Lateral Sclerosis | New England Journal of Medicine Skip to main content The
New England Journal of Medicine homepage Advanced Search SEARCH SPECIALTIES …

C9orf72-mediated ALS and FTD: multiple pathways to disease

R Balendra, AM Isaacs - Nature Reviews Neurology, 2018 - nature.com
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …

Antisense oligonucleotides: the next frontier for treatment of neurological disorders

C Rinaldi, MJA Wood - Nature Reviews Neurology, 2018 - nature.com
Antisense oligonucleotides (ASOs) were first discovered to influence RNA processing and
modulate protein expression over two decades ago; however, progress translating these …

ALS genetics: gains, losses, and implications for future therapies

G Kim, O Gautier, E Tassoni-Tsuchida, XR Ma… - Neuron, 2020 - cell.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …

The C9orf72 repeat expansion disrupts nucleocytoplasmic transport

K Zhang, CJ Donnelly, AR Haeusler, JC Grima… - Nature, 2015 - nature.com
The hexanucleotide repeat expansion (HRE) GGGGCC (G4C2) in C9orf72 is the most
common cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) …

Amyotrophic lateral sclerosis

O Hardiman, A Al-Chalabi, A Chio, EM Corr… - Nature reviews Disease …, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized
by the degeneration of both upper and lower motor neurons, which leads to muscle …