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PGAP2 is essential for correct processing and stable expression of GPI-anchored proteins.
Tashima Y, Taguchi R, Murata C, Ashida H, Kinoshita T, Maeda Y. Tashima Y, et al. Mol Biol Cell. 2006 Mar;17(3):1410-20. doi: 10.1091/mbc.e05-11-1005. Epub 2006 Jan 11. Mol Biol Cell. 2006. PMID: 16407401 Free PMC article.
We identified a gene responsible for this defect, designated PGAP2 (for Post-GPI-Attachment to Proteins 2), which encoded a Golgi/ER-resident membrane protein. ...These results demonstrate that PGAP2 is involved in the processing of GPI-APs required for their stable …
We identified a gene responsible for this defect, designated PGAP2 (for Post-GPI-Attachment to Proteins 2), which encoded a Golgi/ER- …
miR-483-5p offsets functional and behavioural effects of stress in male mice through synapse-targeted repression of Pgap2 in the basolateral amygdala.
Mucha M, Skrzypiec AE, Kolenchery JB, Brambilla V, Patel S, Labrador-Ramos A, Kudla L, Murrall K, Skene N, Dymicka-Piekarska V, Klejman A, Przewlocki R, Mosienko V, Pawlak R. Mucha M, et al. Nat Commun. 2023 Apr 25;14(1):2134. doi: 10.1038/s41467-023-37688-2. Nat Commun. 2023. PMID: 37185241 Free PMC article.
Stress-induced neuromorphological and behavioural effects of miR-483-5p can be recapitulated by shRNA mediated suppression of Pgap2 and prevented by simultaneous overexpression of miR-483-5p-resistant Pgap2. Our results demonstrate that miR-483-5p is sufficient to c …
Stress-induced neuromorphological and behavioural effects of miR-483-5p can be recapitulated by shRNA mediated suppression of Pgap2 a …
PGAP2-Related Hyperphosphatasia-Mental Retardation Syndrome: Report of a Novel Patient, Toward a Broadening of Phenotypic Spectrum and Therapeutic Perspectives.
Saracino A, Totaro M, Politano D, DE Giorgis V, Gana S, Papalia G, Pichiecchio A, Plumari M, Rognone E, Varesio C, Orcesi S. Saracino A, et al. Neuropediatrics. 2024 Apr;55(2):129-134. doi: 10.1055/s-0044-1779613. Epub 2024 Feb 16. Neuropediatrics. 2024. PMID: 38365198
PGAP2 gene has been known to be the cause of "hyperphosphatasia, mental retardation syndrome-3" (HPMRS3). To date, 14 pathogenic variants in PGAP2 have been identified as the cause of this syndrome in 24 patients described in single-case reports or small clinical se
PGAP2 gene has been known to be the cause of "hyperphosphatasia, mental retardation syndrome-3" (HPMRS3). To date, 14 pathogenic vari
PGAP2 mutations, affecting the GPI-anchor-synthesis pathway, cause hyperphosphatasia with mental retardation syndrome.
Krawitz PM, Murakami Y, Rieß A, Hietala M, Krüger U, Zhu N, Kinoshita T, Mundlos S, Hecht J, Robinson PN, Horn D. Krawitz PM, et al. Am J Hum Genet. 2013 Apr 4;92(4):584-9. doi: 10.1016/j.ajhg.2013.03.011. Am J Hum Genet. 2013. PMID: 23561847 Free PMC article.
The mutations cosegregated in the investigated families. PGAP2 is involved in fatty-acid GPI-anchor remodeling, which occurs in the Golgi apparatus and is required for stable association between GPI-anchored proteins and the cell-surface membrane rafts. Transfection of the …
The mutations cosegregated in the investigated families. PGAP2 is involved in fatty-acid GPI-anchor remodeling, which occurs in the G …
Genome-Wide Identification and Comprehensive Analysis of the AP2/ERF Gene Family in Pomegranate Fruit Development and Postharvest Preservation.
Wan R, Song J, Lv Z, Qi X, Han X, Guo Q, Wang S, Shi J, Jian Z, Hu Q, Chen Y. Wan R, et al. Genes (Basel). 2022 May 17;13(5):895. doi: 10.3390/genes13050895. Genes (Basel). 2022. PMID: 35627280 Free PMC article.
Phylogenetic relationship with genes from other species, structures, duplications, annotations, cis-elements in promoter sequences, and protein-protein interaction networks among PgAP2/ERF proteins were comprehensively explored. Expression analysis revealed several PgAP
Phylogenetic relationship with genes from other species, structures, duplications, annotations, cis-elements in promoter sequences, and prot …
A post glycosylphosphatidylinositol (GPI) attachment to proteins, type 2 (PGAP2) variant identified in Mabry syndrome index cases: Molecular genetics of the prototypical inherited GPI disorder.
Thompson MD, Knaus AA, Barshop BA, Caliebe A, Muhle H, Nguyen TTM, Baratang NV, Kinoshita T, Percy ME, Campeau PM, Murakami Y, Cole DE, Krawitz PM, Mabry CC. Thompson MD, et al. Eur J Med Genet. 2020 Apr;63(4):103822. doi: 10.1016/j.ejmg.2019.103822. Epub 2019 Dec 2. Eur J Med Genet. 2020. PMID: 31805394
Rescue assays were conducted in two PGAP2 deficient cell lines, PGAP2 KO cells generated by CRISPR/Cas9 and PGAP2 deficient CHO cells, in order to examine the pathogenicity of the PGAP2 variant. ...Therefore, we conclude that recessive inheritance of c …
Rescue assays were conducted in two PGAP2 deficient cell lines, PGAP2 KO cells generated by CRISPR/Cas9 and PGAP2 defic …
New perspective in diagnostics of mitochondrial disorders: two years' experience with whole-exome sequencing at a national paediatric centre.
Pronicka E, Piekutowska-Abramczuk D, Ciara E, Trubicka J, Rokicki D, Karkucińska-Więckowska A, Pajdowska M, Jurkiewicz E, Halat P, Kosińska J, Pollak A, Rydzanicz M, Stawinski P, Pronicki M, Krajewska-Walasek M, Płoski R. Pronicka E, et al. J Transl Med. 2016 Jun 12;14(1):174. doi: 10.1186/s12967-016-0930-9. J Transl Med. 2016. PMID: 27290639 Free PMC article.
In 19 cases, variants in 18 non-MD related genes (ADAR, CACNA1A, CDKL5, CLN3, CPS1, DMD, DYSF, GBE1, GFAP, HSD17B4, MECP2, MYBPC3, PEX5, PGAP2, PIGN, PRF1, SBDS, SCN2A) were found. The percentage of positive WES results rose gradually with increasing probability of MD acco …
In 19 cases, variants in 18 non-MD related genes (ADAR, CACNA1A, CDKL5, CLN3, CPS1, DMD, DYSF, GBE1, GFAP, HSD17B4, MECP2, MYBPC3, PEX5, …
Excluding Digenic Inheritance of PGAP2 and PGAP3 Variants in Mabry Syndrome (OMIM 239300) Patient: Phenotypic Spectrum Associated with PGAP2 Gene Variants in Hyperphosphatasia with Mental Retardation Syndrome-3 (HPMRS3).
Thompson MD, Li X, Spencer-Manzon M, Andrade DM, Murakami Y, Kinoshita T, Carpenter TO. Thompson MD, et al. Genes (Basel). 2023 Jan 30;14(2):359. doi: 10.3390/genes14020359. Genes (Basel). 2023. PMID: 36833286 Free PMC article.
METHODS: Targeted exome panel sequencing identified homozygous variants of unknown significance (VUS) in PGAP2 c:284A>G and PGAP3 c:259G>A. To assay the pathogenicity of these variants, we conducted a rescue assay in PGAP2 and PGAP3 deficient CHO cell lines. . …
METHODS: Targeted exome panel sequencing identified homozygous variants of unknown significance (VUS) in PGAP2 c:284A>G and PGAP3 …
Hypomorphic mutations in PGAP2, encoding a GPI-anchor-remodeling protein, cause autosomal-recessive intellectual disability.
Hansen L, Tawamie H, Murakami Y, Mang Y, ur Rehman S, Buchert R, Schaffer S, Muhammad S, Bak M, Nöthen MM, Bennett EP, Maeda Y, Aigner M, Reis A, Kinoshita T, Tommerup N, Baig SM, Abou Jamra R. Hansen L, et al. Am J Hum Genet. 2013 Apr 4;92(4):575-83. doi: 10.1016/j.ajhg.2013.03.008. Am J Hum Genet. 2013. PMID: 23561846 Free PMC article.
PGAP2 encodes a protein involved in remodeling the glycosylphosphatidylinositol (GPI) anchor in the Golgi apparatus. ...Rescue experiments with the altered proteins in PGAP2-deficient Chinese hamster ovary cell lines showed less expression of cell-surface GPI-anchor
PGAP2 encodes a protein involved in remodeling the glycosylphosphatidylinositol (GPI) anchor in the Golgi apparatus. ...Rescue experi
A novel mutation in PGAP2 gene causes developmental delay, intellectual disability, epilepsy and microcephaly in consanguineous Saudi family.
Naseer MI, Rasool M, Jan MM, Chaudhary AG, Pushparaj PN, Abuzenadah AM, Al-Qahtani MH. Naseer MI, et al. J Neurol Sci. 2016 Dec 15;371:121-125. doi: 10.1016/j.jns.2016.10.027. Epub 2016 Oct 18. J Neurol Sci. 2016. PMID: 27871432
PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor maturation. ...Data analysis in the patient revealed a novel missense mutation c.191C>T in PGAP2 gene resulting in Alanine to Valine
PGAP2 (Post-GPI Attachment to Proteins 2) gene is involved in lipid remodeling steps of Glycosylphosphatidylinositol (GPI)-anchor mat
40 results