Visceral myopathy: clinical syndromes, genetics, pathophysiology, and fall of the cytoskeleton

SK Hashmi, RH Ceron… - American Journal of …, 2021 - journals.physiology.org
Visceral smooth muscle is a crucial component of the walls of hollow organs like the gut,
bladder, and uterus. This specialized smooth muscle has unique properties that distinguish …

Mutations in Hsp90 cochaperones result in a wide variety of human disorders

JL Johnson - Frontiers in Molecular Biosciences, 2021 - frontiersin.org
The Hsp90 molecular chaperone, along with a set of approximately 50 cochaperones,
mediates the folding and activation of hundreds of cellular proteins in an ATP-dependent …

Molecular mechanisms linking missense ACTG2 mutations to visceral myopathy

RH Ceron, FA Báez-Cruz, NJ Palmer, PJ Carman… - Science …, 2024 - science.org
Visceral myopathy is a life-threatening disease characterized by muscle weakness in the
bowel, bladder, and uterus. Mutations in smooth muscle γ-actin (ACTG2) are the most …

[HTML][HTML] Megacystis-microcolon-intestinal hypoperistalsis syndrome overview

L Ambartsumyan - GeneReviews®[internet], 2024 - ncbi.nlm.nih.gov
Megacystis-Microcolon-Intestinal Hypoperistalsis Syndrome Overview - GeneReviews® -
NCBI Bookshelf US flag An official website of the United States government Here's how you …

Phosducin-like 3 is a novel prognostic and onco-immunological biomarker in glioma: A multi-omics analysis with experimental verification

Z Peng, J Wang, S Tong, Y Wu, D Yi… - Frontiers in …, 2023 - frontiersin.org
Malignant glioma is the most frequent primary tumor of the central nervous system. PDCL3 is
a member of the phosducin-like protein family, and its imbalance has been shown to be …

Hirschsprung disease and paediatric intestinal pseudo-obstruction

A Chanpong, O Borrelli, N Thapar - Best Practice & Research Clinical …, 2022 - Elsevier
Hirschsprung disease (HSCR) and Paediatric Intestinal Pseudo-obstruction (PIPO) comprise
two of the most recognized and severe disorders of gastrointestinal (GI) motility. HSCR is a …

A structural vista of phosducin-like PhLP2A-chaperonin TRiC cooperation during the ATP-driven folding cycle

J Park, H Kim, D Gestaut, S Lim… - Nature …, 2024 - nature.com
Proper cellular proteostasis, essential for viability, requires a network of chaperones and
cochaperones. ATP-dependent chaperonin TRiC/CCT partners with cochaperones prefoldin …

Evaluating the molecular and genetic mechanisms underlying gut motility disorders

A Chanpong, MM Alves, E Bonora… - Expert Review of …, 2023 - Taylor & Francis
Introduction Gastrointestinal (GI) motility disorders comprise a wide range of different
diseases affecting the structural or functional integrity of the GI neuromusculature. Their …

Genome-wide analysis identifies MYH11 compound heterozygous variants leading to visceral myopathy corresponding to late-onset form of megacystis-microcolon …

C Billon, GB Piccoli, JM de Sainte Agathe… - Molecular Genetics and …, 2024 - Springer
Abstract Megacystis-microcolon-hypoperistalsis-syndrome (MMIHS) is a rare and early-
onset congenital disease characterized by massive abdominal distension due to a large non …

Pediatric intestinal pseudo-obstruction

E Saliakellis, MC Turcotte, C Faure… - … Motility Disorders and …, 2023 - Springer
Chronic intestinal pseudo-obstruction (CIPO) represents the most severe end of the
spectrum of gut motility disorders comprising a group of rare, heterogeneous, and disabling …