ArticleJournal of cellular and molecular medicine2015
Idiopathic basal ganglia calcification-associated PDGFRB mutations impair the receptor signalling.
Article in Journal of cellular and molecular medicine, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 papers.
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Who cites it
31 citing papers in PubMed, 59 citations in OpenAlex.
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- Comorbidity Genes of Alzheimer's Disease and Type 2 Diabetes Associated with Memory and Cognitive Function.International journal of molecular sciences · 2024Review
- Case report: Primary familial brain calcification associated with a rareFrontiers in neuroscience · 2024Article
- The Genetics of Primary Familial Brain Calcification: A Literature Review.International journal of molecular sciences · 2023Review
- The Pathology of Primary Familial Brain Calcification: Implications for Treatment.Neuroscience bulletin · 2023Review
- A case report of a patient with primary familial brain calcification with aFrontiers in neurology · 2023Article
- Penttinen syndrome-associated PDGFRB Val665Ala variant causes aberrant constitutive STAT1 signalling.Journal of cellular and molecular medicine · 2022Article
- Neuropsychiatric Manifestations of Fahr's Disease, Diagnostic and Therapeutic Challenge: A Case Report and a Literature Review.Clinical neuropsychiatry · 2022Article
- FOXO1 forkhead domain mutants in B-cell lymphoma lack transcriptional activity.Scientific reports · 2022Article
- The two facets of receptor tyrosine kinase in cardiovascular calcification-can tyrosine kinase inhibitors benefit cardiovascular system?Frontiers in cardiovascular medicine · 2022Review
- Conserved and context-dependent roles for pdgfrb signaling during zebrafish vascular mural cell development.Developmental biology · 2021Article
- MiR-15a-5p Confers Chemoresistance in Acute Myeloid Leukemia by Inhibiting Autophagy Induced by Daunorubicin.International journal of molecular sciences · 2021Article
- Novel COL4A1-VEGFD gene fusion in myofibroma.Journal of cellular and molecular medicine · 2021Article
- PDGF receptor mutations in human diseases.Cellular and molecular life sciences : CMLS · 2021Review
- Mechanisms of calcification in Fahr disease and exposure of potential therapeutic targets.Neurology. Clinical practice · 2020Review
- Article
- A novel PDGFRB sequence variant in a family with a mild form of primary familial brain calcification: a case report and a review of the literature.BMC neurology · 2019Review
- Ossified blood vessels in primary familial brain calcification elicit a neurotoxic astrocyte response.Brain : a journal of neurology · 2019Article
Corrections and comments
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Authors and funding
6 authors at 2 institutions in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Platelet-derived growth factors (PDGF) bind to two related receptor tyrosine kinases, which are encoded by the PDGFRA and PDGFRB genes. Recently, heterozygous PDGFRB mutations have been described in patients diagnosed with idiopathic basal ganglia calcification (IBGC or Fahr disease), a rare inherited neurological disorder. The goal of the present study was to determine whether these mutations had a positive or negative impact on the PDGFRB activity. We first showed that the E1071V mutant behaved like wild-type PDGFRB and may represent a polymorphism unrelated to IBGC. In contrast, the L658P mutant had no kinase activity and failed to activate any of the pathways normally stimulated by PDGF. The R987W mutant activated Akt and MAP kinases but did not induce the phosphorylation of signal transducer and activator of transcription 3 (STAT3) after PDGF stimulation. Phosphorylation of phospholipase Cγ was also decreased. Finally, we showed that the R987W mutant was more rapidly degraded upon PDGF binding compared to wild-type PDGFRB. In conclusion, PDGFRB mutations associated with IBGC impair the receptor signalling. PDGFRB loss of function in IBGC is consistent with recently described inactivating mutations in the PDGF-B ligand. These results raise concerns about the long-term safety of PDGF receptor inhibition by drugs such as imatinib.
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Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the Socratic graph.