About: Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis

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About: Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis Goto Sponge NotDistinct Permalink

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Attributes	Values
rdf:type	skos:Concept http://linked.opendata.cz/ontology/domain/vavai/Vysledek
Description	Phosphorylase-b kinase (PHK) plays a regulatory role in a cascade of enzymatic reactions controlling glycogen breakdown. Deficiency in PHK activity leads to inactivation of glycogen phosphorylase and accumulation of glycogen in liver. Mutations in the gene for the a-subunit of liver phosphorylase-b kinase (PHKA2) are responsible for X-linked liver glycogenosis (XLG). We analysed molecular defects in the PHKA2 gene in four XLG I patients from three unrelated Czech families by direct sequencing of RT-PCR products. Genomic DNA was used to examine other family members and to verify the results from RT-PCR analysis. Three novel mutations associated with the XLG I phenotype were found. Two of the mutations were missense mutations C91Y and G1210E, located in two highly conserved amino acid regions of the PHKA2 gene. The third was an in-frame deletion 3400delC leading to a premature termination. These findings expand our knowledge of mutations responsible for X-linked liver glycogenosis type I and sug Phosphorylase-b kinase (PHK) plays a regulatory role in a cascade of enzymatic reactions controlling glycogen breakdown. Deficiency in PHK activity leads to inactivation of glycogen phosphorylase and accumulation of glycogen in liver. Mutations in the gene for the a-subunit of liver phosphorylase-b kinase (PHKA2) are responsible for X-linked liver glycogenosis (XLG). We analysed molecular defects in the PHKA2 gene in four XLG I patients from three unrelated Czech families by direct sequencing of RT-PCR products. Genomic DNA was used to examine other family members and to verify the results from RT-PCR analysis. Three novel mutations associated with the XLG I phenotype were found. Two of the mutations were missense mutations C91Y and G1210E, located in two highly conserved amino acid regions of the PHKA2 gene. The third was an in-frame deletion 3400delC leading to a premature termination. These findings expand our knowledge of mutations responsible for X-linked liver glycogenosis type I and sug (en)
Title	Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis (en)
skos:prefLabel	Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis (en)
skos:notation	RIV/00216224:14310/01:00004110!RIV/2002/GA0/143102/N
http://linked.open.../vavai/riv/strany	85
http://linked.open...avai/riv/aktivita	P
http://linked.open...avai/riv/aktivity	P(GA302/97/0742)
http://linked.open...iv/cisloPeriodika	1
http://linked.open...vai/riv/dodaniDat	2002
http://linked.open...aciTvurceVysledku	Kozák, L. Slováčková, Romana
http://linked.open.../riv/druhVysledku	J - Článek v odborném periodiku
http://linked.open...iv/duvernostUdaju	S - Úplné a pravdivé údaje nepodléhající ochraně podle zvláštních právních předpisů
http://linked.open...titaPredkladatele	Masarykova univerzita / Přírodovědecká fakulta
http://linked.open...dnocenehoVysledku	682301
http://linked.open...ai/riv/idVysledku	RIV/00216224:14310/01:00004110
http://linked.open...riv/jazykVysledku	eng - angličtina
http://linked.open.../riv/klicovaSlova	Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis (en)
http://linked.open.../riv/klicoveSlovo	Identification of three novel mutations in the PHKA2 gene in Czech patients with X-linked liver glycogenosis
http://linked.open...odStatuVydavatele	GB - Spojené království Velké Británie a Severního Irska
http://linked.open...ontrolniKodProRIV	[5F8A4B78A2D6]
http://linked.open...i/riv/nazevZdroje	Journal of Inherited Metabolic Disease
http://linked.open...in/vavai/riv/obor	EB
http://linked.open...ichTvurcuVysledku	2 (xsd:int)
http://linked.open...cetTvurcuVysledku	6 (xsd:int)
http://linked.open...ocetUcastnikuAkce	0 (xsd:int)
http://linked.open...nichUcastnikuAkce	0 (xsd:int)
http://linked.open...vavai/riv/projekt	The comprehensive study of glycogen storage disease based on DNA analysis.
http://linked.open...UplatneniVysledku	2001
http://linked.open...v/svazekPeriodika	24
http://linked.open...iv/tvurceVysledku	Pešková, Karolína Trbušek, Martin Šťastná, Sylvie Kozák, Libor Rudolfová, Jana Slováčková, Romana
issn	0141-8955
number of pages	3 (xsd:int)
http://localhost/t...ganizacniJednotka	14310

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