The Niemann-Pick type diseases–A synopsis of inborn errors in sphingolipid and cholesterol metabolism

FW Pfrieger - Progress in lipid research, 2023 - Elsevier
Disturbances of lipid homeostasis in cells provoke human diseases. The elucidation of the
underlying mechanisms and the development of efficient therapies represent formidable …

Triclosan: Antimicrobial mechanisms, antibiotics interactions, clinical applications, and human health

P Shrestha, Y Zhang, WJ Chen… - Journal of Environmental …, 2020 - Taylor & Francis
The large-scale applications of Triclosan in industrial and household products have created
many health and environmental concerns. Despite the fears of its drug-resistance and other …

NPC1-dependent alterations in KV2.1–CaV1.2 nanodomains drive neuronal death in models of Niemann-Pick Type C disease

M Casas, KD Murray, K Hino, NC Vierra, S Simó… - Nature …, 2023 - nature.com
Lysosomes communicate through cholesterol transfer at endoplasmic reticulum (ER) contact
sites. At these sites, the Niemann Pick C1 cholesterol transporter (NPC1) facilitates the …

Loss of NPC1 enhances phagocytic uptake and impairs lipid trafficking in microglia

A Colombo, L Dinkel, SA Müller… - Nature …, 2021 - nature.com
Niemann-Pick type C disease is a rare neurodegenerative disorder mainly caused by
mutations in NPC1, resulting in abnormal late endosomal/lysosomal lipid storage. Although …

IP3R-driven increases in mitochondrial Ca2+ promote neuronal death in NPC disease

SA Tiscione, M Casas, JD Horvath… - Proceedings of the …, 2021 - National Acad Sciences
Ca2+ is the most ubiquitous second messenger in neurons whose spatial and temporal
elevations are tightly controlled to initiate and orchestrate diverse intracellular signaling …

β-Adrenergic control of sarcolemmal CaV1.2 abundance by small GTPase Rab proteins

SG Del Villar, TL Voelker, M Westhoff… - Proceedings of the …, 2021 - National Acad Sciences
The number and activity of Cav1. 2 channels in the cardiomyocyte sarcolemma tunes the
magnitude of Ca2+-induced Ca2+ release and myocardial contraction. β-Adrenergic …

c-Abl kinase at the crossroads of healthy synaptic remodeling and synaptic dysfunction in neurodegenerative diseases

DA Gutiérrez, A Chandía-Cristi, MJ Yáñez… - Neural Regeneration …, 2023 - journals.lww.com
Our ability to learn and remember depends on the active formation, remodeling, and
elimination of synapses. Thus, the development and growth of synapses as well as their …

Neuropathophysiology of lysosomal storage diseases: synaptic dysfunction as a starting point for disease progression

C Pará, P Bose, AV Pshezhetsky - Journal of clinical medicine, 2020 - mdpi.com
About two thirds of the patients affected with lysosomal storage diseases (LSD) experience
neurological manifestations, such as developmental delay, seizures, or psychiatric …

NPC1 regulates the distribution of phosphatidylinositol 4‐kinases at Golgi and lysosomal membranes

C Kutchukian, O Vivas, M Casas, JG Jones… - The EMBO …, 2021 - embopress.org
Cholesterol and phosphoinositides (PI) are two critically important lipids that are found in
cellular membranes and dysregulated in many disorders. Therefore, uncovering molecular …

Optimizing calcium detection methods in animal systems: a sandbox for synthetic biology

ES Li, MS Saha - Biomolecules, 2021 - mdpi.com
Since the 1970s, the emergence and expansion of novel methods for calcium ion (Ca2+)
detection have found diverse applications in vitro and in vivo across a series of model …