Patient-Derived Stem Cell Models in HSP: Disease Modelling and Drug Discovery

Overview

Journal Brain Sci

Publisher MDPI

Date 2018 Aug 2

PMID 30065201

Citations 7

Authors

Gautam Wali

Carolyn M Sue

Alan Mackay-Sim

Affiliations

Soon will be listed here.

Abstract

Hereditary spastic paraplegia is an inherited, progressive paralysis of the lower limbs first described by Adolph Strümpell in 1883 with a further detailed description of the disease by Maurice Lorrain in 1888. Today, more than 100 years after the first case of HSP was described, we still do not know how mutations in HSP genes lead to degeneration of the corticospinal motor neurons. This review describes how patient-derived stem cells contribute to understanding the disease mechanism at the cellular level and use this for discovery of potential new therapeutics, focusing on mutations, the most common cause of HSP.

Citing Articles

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management.

Awuah W, Tan J, Shkodina A, Ferreira T, Adebusoye F, Mazzoleni A SAGE Open Med. 2024; 12:20503121231221941.

PMID: 38162912 PMC: 10757446. DOI: 10.1177/20503121231221941.

Reduced acetylated α-tubulin in hereditary spastic paraplegia patient PBMCs.

Wali G, Siow S, Liyanage E, Kumar K, Mackay-Sim A, Sue C Front Neurosci. 2023; 17:1073516.

PMID: 37144097 PMC: 10152469. DOI: 10.3389/fnins.2023.1073516.

An Alzheimer's Disease Patient-Derived Olfactory Stem Cell Model Identifies Gene Expression Changes Associated with Cognition.

Rantanen L, Bitar M, Lampinen R, Stewart R, Quek H, Oikari L Cells. 2022; 11(20).

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The Application of Consensus Weighted Gene Co-expression Network Analysis to Comparative Transcriptome Meta-Datasets of Multiple Sclerosis in Gray and White Matter.

Chai K, Zhang X, Tang H, Gu H, Ye W, Wang G Front Neurol. 2022; 13:807349.

PMID: 35280300 PMC: 8907380. DOI: 10.3389/fneur.2022.807349.

Challenges and Controversies in the Genetic Diagnosis of Hereditary Spastic Paraplegia.

Saputra L, Kumar K Curr Neurol Neurosci Rep. 2021; 21(4):15.

PMID: 33646413 PMC: 7921051. DOI: 10.1007/s11910-021-01099-x.

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