Ask about this productRelated genes to: ZFYVE27 Blocking Peptide
- Gene:
- ZFYVE27 NIH gene
- Name:
- zinc finger FYVE-type containing 27
- Previous symbol:
- -
- Synonyms:
- FLJ32919, SPG33
- Chromosome:
- 10q24.2
- Locus Type:
- gene with protein product
- Date approved:
- 2004-03-05
- Date modifiied:
- 2016-02-15
Related products to: ZFYVE27 Blocking Peptide
Related articles to: ZFYVE27 Blocking Peptide
- Observational studies demonstrate that pro-inflammatory cytokines play a critical role in pericarditis. However, the causal association between circulating plasma proteins and pericarditis remains unestablished. - Source: PubMed
Publication date: 2026/02/09
Chen ZhexuanChen ZongqiangPeng LingfengZhang Huankai - Hereditary spastic paraplegia (HSP) is a group of disorders that mostly affect the upper motor neurons of the spinal cord, with varying inheritance patterns and clinical presentations. We present the case of an 18-year-old male patient who was medically evaluated at a recruitment center due to non-specific complaints of joint pain and difficulty breathing over several years, without an established diagnosis or treatment. Physical examination revealed significant asymmetric muscle weakness in both legs and asymmetrical patellar reflexes. The patient was referred to diverse specialists and underwent a series of diagnostic tests, including blood work, serology, electromyography, nerve conduction tests, and magnetic resonance imaging of the brain and spine. No specific pathology related to the patient's symptoms was identified. Genetic testing, however, revealed heterozygous likely pathogenic variants in both (c.898-2A>G) and (c.1742T>C, p.Leu581Ser) genes, confirming the diagnosis of HSP. This case is notable for the rare occurrence of two distinct, very rare genetic mutations contributing to the pathogenesis of HSP, a situation called dual molecular diagnosis. We report a rare case of HSP dual molecular diagnosis. Both and act on membrane dynamics, critical in neuronal maintenance and axonal transport, essential processes disrupted in HSP. Further investigation is required to inform about potential interaction and the underlying molecular mechanism. Moreover, from the clinical perspective, the diagnostic workup brings to light the importance of awareness of a relatively rare disease and of thorough and comprehensive medical analysis to evaluate and rule out diverse potential causes. - Source: PubMed
Publication date: 2025/08/13
Machluf YossySaid MajdChechik YigalBen-Dor ShifraChaiter Yoram - Sarcopenia is commonly found in the elderly due to a decline in muscle mass. Many researchers have performed genome-wide association studies (GWAS) to find genetic risk factors of sarcopenia. Although many studies have discovered sarcopenia associated single nucleotide polymorphisms (SNPs), most of them are studies targeting Caucasians. The purpose of this study was to evaluate genetic correlation according to muscle mass in middle aged Koreans using data of the Korean Genome and Epidemiology Study (KOGES), a large population-based genomic cohort study. - Source: PubMed
Publication date: 2022/12/26
Gim Jeong-AnLee SangyeobKim Seung ChanBaek Kyung-WanYoo Jun-Il - In this study, we aimed to determine the genetic basis of a Turkish family related to hereditary spastic paraplegia (HSP) by exome sequencing. HSP is a progressive neurodegenerative disorder and displays genetic and clinical heterogeneity. The major symptoms are muscle weakness and spasticity, especially in the lower extremities. We studied seven affected and seven unaffected family members, as well as a clinically undetermined member, to identify the disease-causing gene. Exome sequencing was performed for four affected and two unaffected individuals. The variants were firstly filtered for HSP-associated genes, and we found a common variant in the ZFYVE27 gene, which has been previously implied for association with HSP. Due to the incompletely penetrant segregation pattern of the ZFYVE27 variant, revealed by Sanger sequencing, with the disease in this family, filtering was re-performed according to the mode of inheritance and allelic frequencies. The resulting 14 rare variants were further evaluated in terms of their cellular functions, and three candidate variants in ATAD3C, VPS16, and MYO1H genes were selected as possible causative variants, which were analyzed for their familial segregation. ATAD3C and VPS16 variants were eliminated due to incomplete penetrance. Eventually, the MYO1H variant NM_001101421.3:c.2972_2974del (p.Glu992del, rs372231088) was found as the possible disease-causing deletion for HSP in this family. This is the first study reporting the possible role of a MYO1H variant in HSP pathogenesis. Further studies on the cellular roles of Myo1h protein are needed to validate the causality of MYO1H gene at the onset of HSP. - Source: PubMed
Publication date: 2022/06/15
Selçuk EceKırımtay KorayTemizci BenanAkarsu ŞeymaEverest ElifBaslo Mehmet BarışDemirkıran MeltemYapıcı ZuhalKarabay Arzu - During angiogenesis, endothelial cells form protrusive sprouts and migrate towards the angiogenic stimulus. In this study, we investigate the role of the endoplasmic reticulum (ER)-anchored protein, Protrudin, in endothelial cell protrusion, migration and angiogenesis. Our results demonstrate that Protrudin regulates angiogenic tube formation in primary endothelial cells, Human umbilical vein endothelial cells (HUVECs). Analysis of RNA sequencing data and its experimental validation revealed cell migration as a prominent cellular function affected in HUVECs subjected to Protrudin knockdown. Further, our results demonstrate that knockdown of Protrudin inhibits focal adhesion kinase (FAK) activation in HUVECs and human aortic endothelial cells (HAECs). This is associated with a loss of polarized phospho-FAK distribution upon Protrudin knockdown as compared to Protrudin expressing HUVECs. Reduction of Protrudin also results in a perinuclear accumulation of mTOR and a decrease in VEGF-mediated S6K activation. However, further experiments suggest that the observed inhibition of angiogenesis in Protrudin knockdown cells is not affected by mTOR disturbance. Therefore, our findings suggest that defects in FAK activation and its abnormal subcellular distribution upon Protrudin knockdown are associated with a detrimental effect on endothelial cell migration and angiogenesis. Furthermore, mice with global Protrudin deletion demonstrate reduced retinal vascular progression. To conclude, our results provide evidence for a novel key role of Protrudin in endothelial cell migration and angiogenesis. - Source: PubMed
Publication date: 2022/04/04
Arora AmitaKivelä Annukka MWang LingMinkeviciene RimanteTaskinen Juuso HZhang BirongKoponen AnnikaSun JingShirane MichikoZhou YouHotulainen PirtaRaiborg CamillaOlkkonen Vesa M