Cohen syndrome (CS) is a rare autosomal recessive disorder. CS includes a range of clinical symptoms including retinal dystrophy and myopia. The new VPS13B mutation could cause CS-induced neutropenia and petechiae in patients with CS.
Download full-text PDF |
Source |
|---|---|
| http://www.ncbi.nlm.nih.gov/pmc/articles/PMC8301562 | PMC |
| http://dx.doi.org/10.1002/ccr3.4492 | DOI Listing |
Publication Analysis
Top Keywords
Similar Publications
Stairway to the Golgi: Two paths VPS13B can go by.
J Cell Biol
December 2024
ICFO-Institut de Ciencies Fotoniques, The Barcelona Institute of Science and Technology, Barcelona, Spain.
Article Synopsis
- VPS13 proteins are involved in transferring lipids between cell membranes, with VPS13B linked specifically to Golgi membranes.
- Mutations in VPS13B are responsible for a genetic condition known as Cohen syndrome.
- Recent studies by Ugur et al. and Du et al. have identified new proteins that interact with VPS13B and outlined their roles in maintaining Golgi structure and movement within the cell.*
Sec23IP recruits VPS13B/COH1 to ER exit site-Golgi interface for tubular ERGIC formation.
J Cell Biol
December 2024
Department of Biochemistry and Molecular Biology, School of Basic Medicine, Tongji Medical College and State Key Laboratory for Diagnosis and Treatment of Severe Zoonotic Infectious Diseases, Huazhong University of Science and Technology, Wuhan, China.
VPS13B/COH1 is the only known causative factor for Cohen syndrome, an early-onset autosomal recessive developmental disorder with intellectual inability, developmental delay, joint hypermobility, myopia, and facial dysmorphism as common features, but the molecular basis of VPS13B/COH1 in pathogenesis remains largely unclear. Here, we identify Sec23 interacting protein (Sec23IP) at the ER exit site (ERES) as a VPS13B adaptor that recruits VPS13B to ERES-Golgi interfaces. VPS13B interacts directly with Sec23IP via the VPS13 adaptor binding domain (VAB), and the interaction promotes the association between ERES and the Golgi.
View Article and Find Full Text PDFVPS13B is localized at the interface between Golgi cisternae and is a functional partner of FAM177A1.
J Cell Biol
December 2024
Department of Cell Biology, Yale University School of Medicine, New Haven, CT, USA.
Mutations in VPS13B, a member of a protein family implicated in bulk lipid transport between adjacent membranes, cause Cohen syndrome. VPS13B is known to be concentrated in the Golgi complex, but its precise location within this organelle and thus the site(s) where it achieves lipid transport remains unclear. Here, we show that VPS13B is localized at the interface between proximal and distal Golgi subcompartments and that Golgi complex reformation after Brefeldin A (BFA)-induced disruption is delayed in VPS13B KO cells.
View Article and Find Full Text PDFGenetic landscape and clinical outcomes of autosomal recessive polycystic kidney disease in Kuwait.
Heliyon
July 2024
Department of Medical Laboratory Sciences, Faculty of Allied Health Sciences, Health Sciences Center (HSC), Kuwait University, Jabriya, Kuwait.
Article Synopsis
- The study investigates Autosomal recessive polycystic kidney disease (ARPKD) in Kuwait, focusing on understanding its genetic diversity and clinical presentation to improve management strategies.
- A total of 60 individuals with suspected ARPKD were examined, revealing a significant mortality rate (33.3%) in newborns, while survivors exhibited a variety of health complications, including hypertension and enlarged cystic kidneys.
- The research identified 12 genetic mutations in over half of the cases, emphasizing the need for personalized diagnostic and treatment approaches for ARPKD.
Exploring the pathological mechanisms underlying Cohen syndrome.
Front Neurosci
July 2024
Department of Ophthalmology, University of Lausanne, Jules Gonin Eye Hospital, Fondation Asile Des Aveugles, Lausanne, Switzerland.
Article Synopsis
- Cohen Syndrome (CS) is a rare genetic disorder caused by mutations in the VPS13B gene, leading to symptoms like developmental delays and retinal issues.
- VPS13B belongs to a family of proteins involved in lipid transport within cells and is crucial for the structure of the Golgi apparatus.
- The review discusses research on VPS13B's cellular functions and how animal studies help understand the disease's characteristics in humans.
Want AI Summaries of new PubMed Abstracts delivered to your In-box?
Enter search terms and have AI summaries delivered each week - change queries or unsubscribe any time!