Results 71 to 80 of about 9,301,430 (292)

Lysosomal lipid alterations caused by glucocerebrosidase deficiency promote lysosomal dysfunction, chaperone-mediated-autophagy deficiency, and alpha-synuclein pathology

npj Parkinson's Disease, 2022
Mutations in the GBA gene that encodes the lysosomal enzyme β-glucocerebrosidase (GCase) are a major genetic risk factor for Parkinson’s disease (PD).
Alba Navarro-Romero, Irene Fernandez-Gonzalez, Jordi Riera, Marta Montpeyo, Merce Albert-Bayo, Tresa Lopez-Royo, Pablo Castillo-Sanchez, Clara Carnicer-Caceres, Jose Antonio Arranz-Amo, Laura Castillo-Ribelles, Eddie Pradas, Josefina Casas, Miquel Vila, Marta Martinez-Vicente   +13 more
doaj   +1 more source

Endoplasmic Reticulum Stress and Unfolded Protein Response in Neurodegenerative Diseases

International Journal of Molecular Sciences, 2020
The endoplasmic reticulum (ER) is an important organelle involved in protein quality control and cellular homeostasis. The accumulation of unfolded proteins leads to an ER stress, followed by an adaptive response via the activation of the unfolded ...
Rose Ghemrawi, Mostafa Khair
semanticscholar   +1 more source

Decoding the dual role of autophagy in cancer through transcriptional and epigenetic regulation

FEBS Letters, EarlyView.
Transcriptional and epigenetic regulation controls autophagy, which exerts context‐dependent effects on cancer: Autophagy suppresses tumorigenesis by maintaining cellular homeostasis or promotes tumor progression by supporting survival under stress. In this “In a Nutshell” article, we explore the intricate mechanisms of the dual function of autophagy ...
Young Suk Yu, Ik Soo Kim, Sung Hee Baek
wiley   +1 more source

A novel CHCHD10 mutation implicates a Mia40‐dependent mitochondrial import deficit in ALS

EMBO Molecular Medicine, 2018
CHCHD10 mutations are linked to amyotrophic lateral sclerosis, but their mode of action is unclear. In a 29‐year‐old patient with rapid disease progression, we discovered a novel mutation (Q108P) in a conserved residue within the coiled‐coil‐helix‐coiled‐
Carina Lehmer, Martin H Schludi, Linnea Ransom, Johanna Greiling, Michaela Junghänel, Nicole Exner, Henrick Riemenschneider, Julie van der Zee, Christine Van Broeckhoven, Patrick Weydt, Michael T Heneka, Dieter Edbauer   +11 more
doaj   +1 more source

Autophagy in cancer and protein conformational disorders

FEBS Letters, EarlyView.
Autophagy plays a crucial role in numerous biological processes, including protein and organelle quality control, development, immunity, and metabolism. Hence, dysregulation or mutations in autophagy‐related genes have been implicated in a wide range of human diseases.
Sergio Attanasio
wiley   +1 more source

Dietary Polyphenols and Their Effects on Cell Biochemistry and Pathophysiology 2014 [PDF]

, 2015
Epidemiological studies suggest that high dietary intake of phytochemicals and in particular of polyphenols is associated with decreased risk of a multitude of diseases states including cardiovascular disease, cancer, and neurodegenerative diseases.
Angeloni, Cristina, Maraldi, Tullia, Milenkovic, Dragan, Vauzour, David   +3 more
core   +5 more sources

Interneuronal In Vivo Transfer of Synaptic Proteins

Cells, 2023
Neuron-to-neuron transfer of pathogenic α-synuclein species is a mechanism of likely relevance to Parkinson’s disease development. Experimentally, interneuronal α-synuclein spreading from the low brainstem toward higher brain regions can be reproduced by
Michael Klinkenberg, Michael Helwig, Rita Pinto-Costa, Angela Rollar, Raffaella Rusconi, Donato A. Di Monte, Ayse Ulusoy   +6 more
doaj   +1 more source

The role of TDP-43 propagation in neurodegenerative diseases: integrating insights from clinical and experimental studies

Experimental and Molecular Medicine, 2020
TAR DNA-binding protein 43 (TDP-43) is a highly conserved nuclear RNA/DNA-binding protein involved in the regulation of RNA processing. The accumulation of TDP-43 aggregates in the central nervous system is a common feature of many neurodegenerative ...
Myungjin Jo, Shinrye Lee, Yu-Mi Jeon, Seyeon Kim, Younghwi Kwon, Hyung-Jun Kim   +5 more
semanticscholar   +1 more source

Purification tags markedly affect self‐aggregation of CPEB3

FEBS Letters, EarlyView.
Although recombinant proteins are used to study protein aggregation in vitro, uncleaved tags can interfere with accurate interpretation. Our findings demonstrate that His₆‐GFP and His₁₂ tags significantly affect liquid droplet and amyloid fibril formation in the intrinsically disordered region (IDR) of mouse cytoplasmic polyadenylation element‐binding ...
Harunobu Saito, Yujin Lee, Motoharu Ueno, Naotaka Sekiyama, Masatomo So, Ayako Furukawa, Kenji Sugase   +6 more
wiley   +1 more source

Filter Retardation Assay for Detecting and Quantifying Polyglutamine Aggregates Using Caenorhabditis elegans Lysates [PDF]

, 2018
Protein aggregation is a hallmark of several neurodegenerative diseases and is associated with impaired protein homeostasis. This imbalance is caused by the loss of the protein's native conformation, which ultimately results in its aggregation or ...
Mata Cabana, Alejandro, Nollen, Ellen A. A., Seinstra, Renée I., Sin, Olga   +3 more
core   +2 more sources