Les protéines à domaine patatine

Baulande, Sylvain; Langlois, Clotilde

doi:10.1051/medsci/2010262177

Cited by 15 publications

(3 citation statements)

References 46 publications

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“…Like the two ARCI‐related PNPLA1 mutations identified by Grall et al ., the mutation c.100A>G affects the patatin domain (Ile16 to Thr185; Fig. d), which features the catalytic pair Asp172 and Ser53 . It results in replacement of the hydrophobic residue alanine with hydrophilic threonine (p.Ala34Thr referred to as NP_001139189.2), a change that might well alter protein folding (Fig.…”

Section: Family 12mentioning

confidence: 87%

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

et al. 2014

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Section: Family 12mentioning

confidence: 87%

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

et al. 2014

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“…The PNPLA family of proteins contains nine members, which play key roles in lipid metabolism 32 , 33 . While disease-causing mutations in other members of the family had been previously identified, mutations in PNPLA1 had not been previously implicated in any disease 34 – 37 .…”

Section: Recent Advances In Ichthyosismentioning

confidence: 99%

Recent advances in understanding ichthyosis pathogenesis

Marukian

Choate

2016

F1000Res

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The ichthyoses, also known as disorders of keratinization (DOK), encompass a heterogeneous group of skin diseases linked by the common finding of abnormal barrier function, which initiates a default compensatory pathway of hyperproliferation, resulting in the characteristic clinical manifestation of localized and/or generalized scaling. Additional cutaneous findings frequently seen in ichthyoses include generalized xerosis, erythroderma, palmoplantar keratoderma, hypohydrosis, and recurrent infections. In 2009, the Ichthyosis Consensus Conference established a classification consensus for DOK based on pathophysiology, clinical manifestations, and mode of inheritance. This nomenclature system divides DOK into two main groups: nonsyndromic forms, with clinical findings limited to the skin, and syndromic forms, with involvement of additional organ systems. Advances in next-generation sequencing technology have allowed for more rapid and cost-effective genetic analysis, leading to the identification of novel, rare mutations that cause DOK, many of which represent phenotypic expansion. This review focuses on new findings in syndromic and nonsyndromic ichthyoses, with emphasis on novel genetic discoveries that provide insight into disease pathogenesis.

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“…Among them, PNPLA2 is a key enzyme in the hydrolysis of stored triglycerides (TG), while PNPLA8 is a myocardial phospholipase, maintaining mitochondrial integrity [39]. The GALNT family with lipase and transacylase properties appeared to play major roles in the regulation of lipid metabolism [40]. In addition, data from Pulido et al [41] supported that RAB18 is a common mediator of lipolysis and lipogenesis, and suggested that the endoplasmic reticulum is the link that connected RAB18 action on these two processes.…”

Section: Discussionmentioning

confidence: 99%

Potential molecular mechanism of ACE gene at different time points in STEMI patients based on genome-wide microarray dataset

et al. 2019

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BackgroundThis study aimed to investigate the angiotensin converting enzyme (ACE) co-expression genes and their pathways involved in ST-segment elevation myocardial infarction (STEMI) at different time points.MethodsThe array data set of GSE59867 was examined for the ACE co-expression genes in peripheral blood samples from 111 patients with STEMI at four time points (admission, discharge, and 1 and 6 months after MI). Kyoto Encyclopedia of Genes and Genomes (KEGG) pathway enrichment, Gene Ontology (GO) annotation and protein-protein interaction (PPI) of the co-expression genes were determined using online analytical tools. The Cytoscape software was used to create modules and hub genes.ResultsThe number of biological processes (BP), cellular components (CC) and molecular functions (MF) was 43, 22 and 24 at admission; 18, 19 and 11 at discharge; 30, 37 and 21 at 1 month after MI; and 12, 19 and 14 at 6 months after MI; respectively. There were 6 BP, 8 CC and 4 MF enriched at every time point. The co-expression genes were substantially enriched in 12, 5, 6 and 14 KEGG pathways at the four time points, respectively, but no KEGG pathway was found to be common in all time points. We identified 132 intersectional co-expression genes (90 positive and 42 negative) from the four time points and 17 BP, 13 CC, 11 MF and 7 KEGG pathways were enriched. In addition, the PPI network contained 129 nodes and 570 edges, and only 1 module was identified to be significantly enriched in just 1 BP (chromatin-mediated maintenance of transcription).ConclusionsThe results of the present study showed that the ACE co-expression genes and their pathways involved in STEMI were significantly different at four different time points. These findings may be helpful for further understanding the functions and roles of ACE in different stages of STEMI, and providing reference for the treatment of STEMI.

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Les protéines à domaine patatine

Cited by 15 publications

References 46 publications

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

Identification of a novelPNPLA1mutation in a Spanish family with autosomal recessive congenital ichthyosis

Recent advances in understanding ichthyosis pathogenesis

Potential molecular mechanism of ACE gene at different time points in STEMI patients based on genome-wide microarray dataset

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