Zytoplasmatische Isozitratdehydrogenase [NADP]

Das IDH1-Gen kodiert ein zytoplasmatisches Gen des Zitratstoffwechsels. Genetische Varianten sind mit der Neigung zu Gliomen vergesellschaftet.

Diagnostik:

Clinic	Untersuchungsmethoden	Familienuntersuchung
	Bearbeitungszeit	5
	Probentyp	genomic DNA

Research	Untersuchungsmethoden	Multiplex ligationsabhängige Amplifikation
	Bearbeitungszeit	25
	Probentyp	genomic DNA

Research	Untersuchungsmethoden	Direkte Sequenzierung der proteinkodierenden Bereiche eines Gens
	Bearbeitungszeit	25
	Probentyp	genomic DNA

Clinic	Untersuchungsmethoden	Hochdurchsatz-Sequenzierung
	Bearbeitungszeit	25
	Probentyp	genomic DNA

Krankheiten:

Gliom-Neigung
	IDH1

Referenzen:

1.	Weil D et. al. (1977) [Regional localization of the genes for human IDHs, MDHs PGK, alphaGAL, G6PD by interspecific hybridization (author's transl)]. [^]

2.	Narahara K et. al. (1985) Probable assignment of soluble isocitrate dehydrogenase (IDH1) to 2q33.3. [^]

Boone C et. al. (1972) Assignment of three human genes to chromosomes (LDH-A to 11, TK to 17, and IDH to 20) and evidence for translocation between human and mouse chromosomes in somatic cell hybrids (thymidine kinase-lactate dehydrogenase A-isocitrate dehydrogenase-C-11, E-17, and F-20 chromosomes).

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4.	Chen SH et. al. (1972) Genetic variation of the soluble form of NADP-dependent isocitric dehydrogenase in man. [^]

5.	None (1972) Genetics of human-mouse somatic cell hybrids: linkage of human genes for isocitrate dehydrogenase and malate dehydrogenase. [^]

6.	None (1968) Intracellular location and genetic control of isozymes of NADP-dependent isocitrate dehydrogenase and malate dehydrogenase. [^]

7.	Turner BM et. al. (1974) An account of two new ICD-S variants not detectable in red blood cells. [^]

8.	Creagan RP et. al. (1974) Chromosome assignments of genes in man using mouse-human somatic cell hybrids: Cytoplasmic isocitrate dehydrogenase (IDH 1) and malate dehydrogenase (MDH 1) to chromosomes 2. [^]

9.	None (1973) Linkage analysis in man by somatic cell genetics. [^]

10.	Nekrutenko A et. al. (1998) Cytosolic isocitrate dehydrogenase in humans, mice, and voles and phylogenetic analysis of the enzyme family. [^]

11.	Geisbrecht BV et. al. (1999) The human PICD gene encodes a cytoplasmic and peroxisomal NADP(+)-dependent isocitrate dehydrogenase. [^]

12.	Shechter I et. al. (2003) IDH1 gene transcription is sterol regulated and activated by SREBP-1a and SREBP-2 in human hepatoma HepG2 cells: evidence that IDH1 may regulate lipogenesis in hepatic cells. [^]

13.	None (1965) ISOZYMES OF ISOCITRATE DEHYDROGENASE: SUBUNIT STRUCTURE AND INTRACELLULAR LOCATION. [^]

14.	Xu X et. al. (2004) Structures of human cytosolic NADP-dependent isocitrate dehydrogenase reveal a novel self-regulatory mechanism of activity. [^]

15.	Memon AA et. al. (2005) Identification of differentially expressed proteins during human urinary bladder cancer progression. [^]

16.	Ronnebaum SM et. al. (2006) A pyruvate cycling pathway involving cytosolic NADP-dependent isocitrate dehydrogenase regulates glucose-stimulated insulin secretion. [^]

17.	Parsons DW et. al. (2008) An integrated genomic analysis of human glioblastoma multiforme. [^]

18.	Aghili M et. al. (2009) Hydroxyglutaric aciduria and malignant brain tumor: a case report and literature review. [^]

19.	Yan H et. al. (2009) IDH1 and IDH2 mutations in gliomas. [^]

20.	Zhao S et. al. (2009) Glioma-derived mutations in IDH1 dominantly inhibit IDH1 catalytic activity and induce HIF-1alpha. [^]

21.	Mardis ER et. al. (2009) Recurring mutations found by sequencing an acute myeloid leukemia genome. [^]

22.	Dubbink HJ et. al. (2009) IDH1 mutations in low-grade astrocytomas predict survival but not response to temozolomide. [^]

23.	Dang L et. al. (2009) Cancer-associated IDH1 mutations produce 2-hydroxyglutarate. [^]

24.	Schnittger S et. al. (2010) IDH1 mutations are detected in 6.6% of 1414 AML patients and are associated with intermediate risk karyotype and unfavorable prognosis in adults younger than 60 years and unmutated NPM1 status. [^]

25.	Bralten LB et. al. (2011) IDH1 R132H decreases proliferation of glioma cell lines in vitro and in vivo. [^]

26.	Turcan S et. al. (2012) IDH1 mutation is sufficient to establish the glioma hypermethylator phenotype. [^]

27.	Koivunen P et. al. (2012) Transformation by the ®-enantiomer of 2-hydroxyglutarate linked to EGLN activation. [^]

28.	Lu C et. al. (2012) IDH mutation impairs histone demethylation and results in a block to cell differentiation. [^]

29.	Sasaki M et. al. (2012) IDH1(R132H) mutation increases murine haematopoietic progenitors and alters epigenetics. [^]

30.	Losman JA et. al. (2013) ®-2-hydroxyglutarate is sufficient to promote leukemogenesis and its effects are reversible. [^]

31.	Rohle D et. al. (2013) An inhibitor of mutant IDH1 delays growth and promotes differentiation of glioma cells. [^]

32.	et. al. (2013) Genomic and epigenomic landscapes of adult de novo acute myeloid leukemia. [^]

33.	Miller CA et. al. (2013) Genomic landscapes and clonality of de novo AML. [^]

34.	Brewin J et. al. (2013) Genomic landscapes and clonality of de novo AML. [^]

35.	Saha SK et. al. (2014) Mutant IDH inhibits HNF-4α to block hepatocyte differentiation and promote biliary cancer. [^]

36.	Schumacher T et. al. (2014) A vaccine targeting mutant IDH1 induces antitumour immunity. [^]

37.	Flavahan WA et. al. (2016) Insulator dysfunction and oncogene activation in IDH mutant gliomas. [^]

Update: 26. September 2018