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

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 …

Generation of functional human 3D cortico-motor assembloids

J Andersen, O Revah, Y Miura, N Thom, ND Amin… - Cell, 2020‏ - cell.com
Neurons in the cerebral cortex connect through descending pathways to hindbrain and
spinal cord to activate muscle and generate movement. Although components of this …

Multi-lineage human iPSC-derived platforms for disease modeling and drug discovery

A Sharma, S Sances, MJ Workman, CN Svendsen - Cell stem cell, 2020‏ - cell.com
Human induced pluripotent stem cells (hiPSCs) provide a powerful platform for disease
modeling and have unlocked new possibilities for understanding the mechanisms governing …

Self-organizing 3D human trunk neuromuscular organoids

JMF Martins, C Fischer, A Urzi, R Vidal, S Kunz… - Cell stem cell, 2020‏ - cell.com
Neuromuscular networks assemble during early human embryonic development and are
essential for the control of body movement. Previous neuromuscular junction modeling …

[HTML][HTML] Large-scale differentiation of iPSC-derived motor neurons from ALS and control subjects

MJ Workman, RG Lim, J Wu, A Frank, L Ornelas… - Neuron, 2023‏ - cell.com
Using induced pluripotent stem cells (iPSCs) to understand the mechanisms of neurological
disease holds great promise; however, there is a lack of well-curated lines from a large array …

[HTML][HTML] SOD1, more than just an antioxidant

ECA Eleutherio, RSS Magalhães… - Archives of Biochemistry …, 2021‏ - Elsevier
During cellular respiration, radicals, such as superoxide, are produced, and in a large
concentration, they may cause cell damage. To combat this threat, the cell employs the …

A 3D culture model of innervated human skeletal muscle enables studies of the adult neuromuscular junction

M Afshar Bakooshli, ES Lippmann, B Mulcahy, N Iyer… - Elife, 2019‏ - elifesciences.org
Two-dimensional (2D) human skeletal muscle fiber cultures are ill-equipped to support the
contractile properties of maturing muscle fibers. This limits their application to the study of …

Integrated transcriptome landscape of ALS identifies genome instability linked to TDP-43 pathology

OJ Ziff, J Neeves, J Mitchell, G Tyzack… - Nature …, 2023‏ - nature.com
Abstract Amyotrophic Lateral Sclerosis (ALS) causes motor neuron degeneration, with 97%
of cases exhibiting TDP-43 proteinopathy. Elucidating pathomechanisms has been …

Nuclear accumulation of CHMP7 initiates nuclear pore complex injury and subsequent TDP-43 dysfunction in sporadic and familial ALS

AN Coyne, V Baskerville, BL Zaepfel… - Science translational …, 2021‏ - science.org
Alterations in the components [nucleoporins (Nups)] and function of the nuclear pore
complex (NPC) have been implicated as contributors to the pathogenesis of genetic forms of …