Not So Rare: Diseases Based on Mutant Proteins Controlling Endoplasmic Reticulum-Mitochondria Contact (MERC) Tethering
T Makio, T Simmen - Contact, 2024 - journals.sagepub.com
Mitochondria-endoplasmic reticulum contacts (MERCs), also called endoplasmic reticulum
(ER)-mitochondria contact sites (ERMCS), are the membrane domains, where these two …
(ER)-mitochondria contact sites (ERMCS), are the membrane domains, where these two …
Characteristics of Developmental and Epileptic Encephalopathy Associated with PACS2 p.Glu209Lys Pathogenic Variant—Our Experience and Systematic Review of …
Background: Developmental and epileptic encephalopathies (DEE) encompass a group of
rare diseases with hereditary and genetic causes as well as acquired causes such as brain …
rare diseases with hereditary and genetic causes as well as acquired causes such as brain …
Towards a Unitary Hypothesis of Alzheimer's Disease Pathogenesis
E Area-Gomez, EA Schon - Journal of Alzheimer's Disease, 2024 - content.iospress.com
The “amyloid cascade” hypothesis of Alzheimer's disease (AD) pathogenesis invokes the
accumulation in the brain of plaques (containing the amyloid-β protein precursor [AβPP] …
accumulation in the brain of plaques (containing the amyloid-β protein precursor [AβPP] …
PACS-1 Interacts with TRPC3 and ESyt1 to Mediate Protein Trafficking while Promoting SOCE and Cooperatively Regulating Hormone Secretion
SM Trothen, JE Teplitsky, RE Armstong, RX Zang… - ACS …, 2024 - ACS Publications
Corticotropic cells of the anterior pituitary gland release adrenocorticotropic hormone
(ACTH) in a regulated manner to promote the production of cortisol and androgens. The …
(ACTH) in a regulated manner to promote the production of cortisol and androgens. The …
Understanding PACS2 syndrome's pathomechanism by studying E209K and E211K mutations
Phosphofurin acidic cluster sorting protein 2 (PACS2) plays a vital role in maintaining
cellular homeostasis by regulating protein trafficking between cellular membranes. This …
cellular homeostasis by regulating protein trafficking between cellular membranes. This …
The ER Thioredoxin-Related Transmembrane Protein TMX2 Controls Redox-Mediated Tethering of ER-Mitochondria Contacts (ERMCS)
J Chen, MC Yap, A Bassot, DM Pascual, T Makio… - bioRxiv, 2024 - biorxiv.org
Thioredoxin-related transmembrane proteins (TMX) of the endoplasmic reticulum (ER) have
emerged as key regulators of ER membrane properties. Within the ER lumen, TMX proteins …
emerged as key regulators of ER membrane properties. Within the ER lumen, TMX proteins …