Genetic disorders of cellular trafficking

A García-Cazorla, A Oyarzábal, JM Saudubray… - Trends in Genetics, 2022 - cell.com
Cellular trafficking is essential to maintain critical biological functions. Mutations in 346
genes, most of them described in the last 5 years, are associated with disorders of cellular …

Human microphysiological models of intestinal tissue and gut microbiome

SN Steinway, J Saleh, BK Koo, D Delacour… - … in bioengineering and …, 2020 - frontiersin.org
The gastrointestinal (GI) tract is a complex system responsible for nutrient absorption,
digestion, secretion, and elimination of waste products that also hosts immune surveillance …

Benefit of anakinra in treating pediatric secondary hemophagocytic lymphohistiocytosis

EM Eloseily, P Weiser, CB Crayne… - Arthritis & …, 2020 - Wiley Online Library
Objective To assess the benefit of the recombinant human interleukin‐1 receptor antagonist
anakinra in treating pediatric patients with secondary hemophagocytic lymphohistiocytosis …

Strategies for genetic manipulation of adult stem cell-derived organoids

C Menche, HF Farin - Experimental & Molecular Medicine, 2021 - nature.com
Organoid technology allows the expansion of primary epithelial cells from normal and
diseased tissues, providing a unique model for human (patho) biology. In a three …

Intestinal brush border formation requires a TMIGD1-based intermicrovillar adhesion complex

C Hartmann, EM Thüring, L Greune, BE Michels… - Science …, 2022 - science.org
Intestinal epithelial cells absorb nutrients through the brush border, composed of dense
arrays of highly ordered microvilli at their apical membranes. A protocadherin-based …

SNAREs and developmental disorders

BL Tang - Journal of cellular physiology, 2021 - Wiley Online Library
Members of the soluble N‐ethylmaleimide‐sensitive factor attachment protein receptor
(SNARE) family mediate membrane fusion processes associated with vesicular trafficking …

Monogenic inflammatory bowel disease with STXBP2 mutations is not resolved by hematopoietic stem cell transplantation but can be alleviated via …

H Fujikawa, H Shimizu, R Nambu, I Takeuchi… - Clinical …, 2023 - Elsevier
STXBP2, encoding syntaxin-binding protein 2, is involved in intracellular organelle
trafficking and is associated with familial hemophagocytic lymphohistiocytosis type 5 …

[HTML][HTML] Recent advances in understanding and managing malabsorption: focus on microvillus inclusion disease

D Jayawardena, WA Alrefai, PK Dudeja, RK Gill - F1000Research, 2019 - ncbi.nlm.nih.gov
Microvillus inclusion disease (MVID) is a rare congenital severe malabsorptive and
secretory diarrheal disease characterized by blunted or absent microvilli with accumulation …

Haematopoietic stem cell transplantation for primary haemophagocytic lymphohistiocytosis

K Lehmberg, D Moshous, C Booth - Frontiers in pediatrics, 2019 - frontiersin.org
Haematopoietic stem cell transplantation currently remains the only curative treatment of
primary forms of haemophagocytic lymphohistiocytosis (HLH). Rapid diagnosis, efficient …

The role of metal oxide nanoparticles, Escherichia coli, and Lactobacillus rhamnosus on small intestinal enzyme activity

A García-Rodríguez, F Moreno-Olivas… - Environmental …, 2020 - pubs.rsc.org
Engineered nanomaterials (ENMs) have become common in the food industry, which
motivates the need to evaluate ENM effects on human health. Gastrointestinal (GI) in vitro …