Generation of three human induced pluripotent stem cell (hiPSC) lines derived from one Gaucher disease patient with Parkinson's disease and two unrelated Parkinson's disease patients with GBA mutations

Tofoli, Fabiano A.; Chien, Hsin Fen; Barbosa, Egberto Reis; Pereira, Lygia V.

doi:10.1016/j.scr.2019.101519

Cited by 2 publications

(1 citation statement)

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“…Interestingly, the authors found that inhibiting mTORC1 by Torin1 upregulated lysosomal expression and improved autophagic clearance, suggesting that mTORC1 can be a potential therapeutic target for treating neurodegeneration in CD patients [139]. New insights continue to emerge with a generation of novel GD iPSC cell lines [140][141][142], enabling researchers to advance understanding of the neuronal signatures of this disease.…”

Section: Ipscs As An Emerging Model To Study Human Neuronal Dysfunctimentioning

confidence: 99%

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression

Pará

Bose

Pshezhetsky

2020

JCM

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About two thirds of the patients affected with lysosomal storage diseases (LSD) experience neurological manifestations, such as developmental delay, seizures, or psychiatric problems. In order to develop efficient therapies, it is crucial to understand the neuropathophysiology underlying these symptoms. How exactly lysosomal storage affects biogenesis and function of neurons is still under investigation however recent research highlights a substantial role played by synaptic defects, such as alterations in synaptic spines, synaptic proteins, postsynaptic densities, and synaptic vesicles that might lead to functional impairments in synaptic transmission and neurodegeneration, finally culminating in massive neuronal death and manifestation of cognitive symptoms. Unveiling how the synaptic components are affected in neurological LSD will thus enable a better understanding of the complexity of disease progression as well as identify crucial targets of therapeutic relevance and optimal time windows for targeted intervention.

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