ArticleCell death & disease2021
TMEM165 a new player in proteoglycan synthesis: loss of TMEM165 impairs elongation of chondroitin- and heparan-sulfate glycosaminoglycan chains of proteoglycans and triggers early chondrocyte differentiation and hypertrophy.
Article in Cell death & disease, 2021. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
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Who cites it
11 citing papers in PubMed, 21 citations in OpenAlex.
- Article
- Defining the host dependencies and the transcriptional landscape of RSV infection and bystander activation.bioRxiv : the preprint server for biology · 2025Article
- Genome-wide identification of modulators of Chlamydia trachomatis parasitophorous vacuole stability highlights an important role for sphingolipid supply.PLoS biology · 2025Article
- Diagnostic and Therapeutic Approaches in Congenital Disorders of Glycosylation.Handbook of experimental pharmacology · 2025Review
- Putative role of TMEM165 in congenital cardiomyopathies.Frontiers in molecular neuroscience · 2025Review
- A mechanism of lysosomal calcium entry.Science advances · 2024Article
- Glycobiology in osteoclast differentiation and function.Bone research · 2023Review
- Insights into the regulation of cellular MnBiochimica et biophysica acta. Molecular basis of disease · 2023Article
- New insights into the pathogenicity of TMEM165 variants using structural modeling based on AlphaFold 2 predictions.Computational and structural biotechnology journal · 2023Article
- Spatiotemporal diversity and regulation of glycosaminoglycans in cell homeostasis and human disease.American journal of physiology. Cell physiology · 2022Review
- Differential Effects of D-Galactose Supplementation on Golgi Glycosylation Defects in TMEM165 Deficiency.Frontiers in cell and developmental biology · 2022Article
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Authors and funding
5 authors at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
TMEM165 deficiency leads to skeletal disorder characterized by major skeletal dysplasia and pronounced dwarfism. However, the molecular mechanisms involved have not been fully understood. Here, we uncover that TMEM165 deficiency impairs the synthesis of proteoglycans by producing a blockage in the elongation of chondroitin-and heparan-sulfate glycosaminoglycan chains leading to the synthesis of proteoglycans with shorter glycosaminoglycan chains. We demonstrated that the blockage in elongation of glycosaminoglycan chains is not due to defect in the Golgi elongating enzymes but rather to availability of the co-factor Mn
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