Jakub Scaber

Oxford, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 21 publications

Mutant TDP-43 drives impairments in axonal transport and glycolysis in a mouse stem-cell-derived motor neuron model of amyotrophic lateral sclerosis (ALS).

Mutant TDP-43 drives impairments in axonal transport and glycolysis in a mouse stem-cell-derived motor neuron model of amyotrophic lateral sclerosis (ALS).

Journal: Cell death & disease
Published: July 02, 2025

Neurodegenerative disease in C9orf72 repeat expansion carriers: population risk and effect of UNC13A.

Neurodegenerative disease in C9orf72 repeat expansion carriers: population risk and effect of UNC13A.

Journal: Brain : a journal of neurology
Published: March 05, 2025

Drug repurposing in amyotrophic lateral sclerosis (ALS).

Drug repurposing in amyotrophic lateral sclerosis (ALS).

Journal: Expert opinion on drug discovery
Published: March 03, 2025

Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons.

Dynactin-1 mediates rescue of impaired axonal transport due to reduced mitochondrial bioenergetics in amyotrophic lateral sclerosis motor neurons.

Journal: Brain communications
Published: February 13, 2024

Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons.

Cellular and axonal transport phenotypes due to the C9ORF72 HRE in iPSC motor and sensory neurons.

Journal: Stem cell reports
Published: August 29, 2023

C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9.

C9orf72-ALS human iPSC microglia are pro-inflammatory and toxic to co-cultured motor neurons via MMP9.

Journal: Nature communications
Published: February 09, 2023

Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.

Advantages of routine next-generation sequencing over standard genetic testing in the amyotrophic lateral sclerosis clinic.

Journal: European journal of neurology
Published: September 12, 2022

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons.

Human iPSC co-culture model to investigate the interaction between microglia and motor neurons.

Journal: Scientific reports
Published: May 15, 2022

Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation.

Human stem cell models of neurodegeneration: From basic science of amyotrophic lateral sclerosis to clinical translation.

Journal: Cell stem cell
Published: January 07, 2022

Genetic testing in motor neurone disease.

Genetic testing in motor neurone disease.

Journal: Practical neurology
Published: December 05, 2021

Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain.

Multicentre appraisal of amyotrophic lateral sclerosis biofluid biomarkers shows primacy of blood neurofilament light chain.

Journal: Brain communications
Published: November 16, 2021

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.

Correction of amyotrophic lateral sclerosis related phenotypes in induced pluripotent stem cell-derived motor neurons carrying a hexanucleotide expansion mutation in C9orf72 by CRISPR/Cas9 genome editing using homology-directed repair.

Journal: Human molecular genetics
Published: January 31, 2020
Showing 1-12 of 21

Last Updated: 09/26/2026