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 …

Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies

MW Baughn, Z Melamed, J López-Erauskin… - Science, 2023 - science.org
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies,
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

XR Ma, M Prudencio, Y Koike, SC Vatsavayai, G Kim… - Nature, 2022 - nature.com
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …

Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD

S Seddighi, YA Qi, AL Brown, OG Wilkins… - Science translational …, 2024 - science.org
Functional loss of TDP-43, an RNA binding protein genetically and pathologically linked to
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …

Neuropathogenesis-on-chips for neurodegenerative diseases

S Amartumur, H Nguyen, T Huynh, TS Kim… - Nature …, 2024 - nature.com
Develo** diagnostics and treatments for neurodegenerative diseases (NDs) is
challenging due to multifactorial pathogenesis that progresses gradually. Advanced in vitro …

A fluid biomarker reveals loss of TDP-43 splicing repression in presymptomatic ALS–FTD

KE Irwin, P Jasin, KE Braunstein, IR Sinha, MA Garret… - Nature medicine, 2024 - nature.com
Although loss of TAR DNA-binding protein 43 kDa (TDP-43) splicing repression is well
documented in postmortem tissues of amyotrophic lateral sclerosis (ALS) and frontotemporal …

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

Splicing regulation through biomolecular condensates and membraneless organelles

J Giudice, H Jiang - Nature Reviews Molecular Cell Biology, 2024 - nature.com
Biomolecular condensates, sometimes also known as membraneless organelles (MLOs),
can form through weak multivalent intermolecular interactions of proteins and nucleic acids …

Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis

H Ilieva, M Vullaganti, J Kwan - bmj, 2023 - bmj.com
Although the past two decades have produced exciting discoveries in the genetics and
pathology of amyotrophic lateral sclerosis (ALS), progress in develo** an effective therapy …