Pluripotent Stem Cells as a Preclinical Cellular Model for Studying Hereditary Spastic Paraplegias

D Damiani, M Baggiani, S Della Vecchia… - International Journal of …, 2024 - mdpi.com
Hereditary spastic paraplegias (HSPs) comprise a family of degenerative diseases mostly
hitting descending axons of corticospinal neurons. Depending on the gene and mutation …

[HTML][HTML] The Sar1 GTPase is dispensable for COPII-dependent cargo export from the ER

W Kasberg, P Luong, MG Hanna, K Minushkin, A Tsao… - Cell reports, 2023 - cell.com
Coat protein complex II (COPII) plays an integral role in the packaging of secretory cargoes
within membrane-enclosed transport carriers that leave the endoplasmic reticulum (ER) from …

[HTML][HTML] Nlp-dependent ER-to-Golgi transport

D Yeerken, W Xiao, J Li, Y Wang, Q Wu… - … Journal of Biological …, 2024 - ncbi.nlm.nih.gov
The mechanism that maintains ER-to-Golgi vesicles formation and transport is complicated.
As one of the adapters, Ninein-like protein (Nlp) participated in assembly and transporting of …

Hsc70 promotes anti-tumor immunity by targeting PD-L1 for lysosomal degradation

X Xu, T Xie, M Zhou, Y Sun, F Wang, Y Tian… - Nature …, 2024 - nature.com
Immune checkpoint inhibition targeting the PD-1/PD-L1 pathway has become a powerful
clinical strategy for treating cancer, but its efficacy is complicated by various resistance …

Novel TFG mutation causes autosomal-dominant spastic paraplegia and defects in autophagy

L Xu, Y Wang, W Wang, R Zhang, D Zhao… - Journal of Medical …, 2024 - jmg.bmj.com
Background Mutations in the tropomyosin receptor kinase fused (TFG) gene are associated
with various neurological disorders, including autosomal recessive hereditary spastic …

Characterization of a novel TFG variant causing autosomal recessive pure hereditary spastic paraplegia

CT Hsiao, TY Tsai, TY Shen, YS Tsai… - Annals of Clinical …, 2024 - Wiley Online Library
Objective TFG mutations have previously been implicated in autosomal recessive hereditary
spastic paraplegia (HSP), also known as SPG57. This study aimed to investigate the clinical …

Hereditary spastic paraplegia: Novel insights into the pathogenesis and management

WA Awuah, JK Tan, AD Shkodina… - SAGE Open …, 2024 - journals.sagepub.com
Hereditary spastic paraplegia is a genetically heterogeneous neurodegenerative disorder
characterised primarily by muscle stiffness in the lower limbs. Neurodegenerative disorders …

Toxoplasma gondii infection accelerates the progression of hereditary spastic paraplegia

JR Alvin, CJ Ramirez-Flores, CA Mendina, A Audhya… - bioRxiv, 2024 - biorxiv.org
The parasitic protozoa Toxoplasma gondii chronically infects the central nervous system of
an estimated one-third of the human population. Infection is generally subclinical, but …

[HTML][HTML] Nutrient deprivation alters the rate of COPII coat assembly to tune secretory protein transport

W Kasberg, P Luong, KA Swift, A Audhya - Research Square, 2023 - ncbi.nlm.nih.gov
Co-assembly of the multilayered coat protein complex II (COPII) with the Sari GTPase at
subdomains of the endoplasmic reticulum (ER) enables secretory cargoes to be …

[图书][B] Determining the Mechanism of Copii Regulatory Factors Governing Copii-mediated Cargo Trafficking

P Luong - 2022 - search.proquest.com
Proper cargo trafficking is critical for secretory cells to maintain health and biological
functions, where mutations along the secretory pathway have demonstrated incompatibility …