当前位置： SCI文献检索 > JOURNAL OF HUMAN GENETICS期刊下所有文献 > Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

Biochemical characterization of novel glucokinase mutations isolated from Spanish maturity-onset diabetes of the young (MODY2) patients.

Abstract：

:Mature-onset diabetes of the young, type 2 (MODY2) is associated with mutations in the glucokinase (GCK) gene that result in impaired glucokinase activity. Although more than 200 inactivating GCK mutations have been reported, only less than 20% of these mutations have been functionally characterized. In this work, we describe the biochemical characterization of six missense glucokinase mutations associated with MODY2 from Spanish patients, namely, Y61S, V182L, C233R, E265K, A379V, and K420E. All these mutations produced enzymes that presented reduced enzymatic activity in various degrees, from a mild affectation (K420E) to a more severe effect (C233R). Mutation severity correlated with the importance of the structural changes introduced by the mutations. For example, C233R affected a critical residue of the active center of the enzyme and rendered a protein with undetectable enzymatic activity. These data add new information on the structure-function relationship of human glucokinase.

journal_name

J Hum Genet

journal_title

Journal of human genetics

authors

Estalella I,Garcia-Gimeno MA,Marina A,Castaño L,Sanz P

doi

10.1007/s10038-008-0271-5

subject

Has Abstract

pub_date

2008-01-01 00:00:00

pages

460-466

issue

5

eissn

1434-5161

issn

1435-232X

pii

10.1007/s10038-008-0271-5

journal_volume

53

pub_type

杂志文章

相关文献

JOURNAL OF HUMAN GENETICS文献大全
  • Rapid identification of an A1555G mutation in human mitochondrial DNA implicated in aminoglycoside-induced ototoxicity.

    abstract：:This article describes a multiplex allele-specific PCR (AS-PCR) approach for detection of an A to G mutation occurring in the human mitochondrial 12s RNA gene at nucleotide 1555. Possession of this mutation has been shown to be associated with irreversible hearing loss following administration of aminoglycoside antibi...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050184

    authors： Scrimshaw BJ,Faed JM,Tate WP,Yun K

    更新日期：1999-01-01 00:00:00

  • Family-based analysis of vitamin D receptor gene polymorphisms and type 1 diabetes in the population of South Croatia.

    abstract：:Type 1 diabetes mellitus (T1DM) is a disease characterised by the autoimmune destruction of insulin-producing pancreatic beta cells. Vitamin D is a known immune system modulator and its effects are exerted via the vitamin D receptor (VDR). Several VDR gene single nucleotide polymorphisms (SNPs) have been commonly stud...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-007-0234-2

    authors： Boraska V,Škrabić V,Zeggini E,Groves CJ,Buljubašić M,Peruzović M,Zemunik T

    更新日期：2008-01-01 00:00:00

  • Different contributions of ancient mitochondrial and Y-chromosomal lineages in 'Karretjie people' of the Great Karoo in South Africa.

    abstract：:The Karretjie people of the South African Great Karoo are itinerants who subsist by sheep shearing. Although officially classified 'Coloured', they are aware of their Khoe and San roots. To investigate the maternal and paternal ancestries of the Karretjie people we analyzed their mitochondrial and Y-chromosome DNA var...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.71

    authors： Schlebusch CM,de Jongh M,Soodyall H

    更新日期：2011-09-01 00:00:00

  • Polymorphisms in NRXN3, TFAP2B, MSRA, LYPLAL1, FTO and MC4R and their effect on visceral fat area in the Japanese population.

    abstract：:The predominant risk factor of metabolic syndrome is intra-abdominal fat accumulation, which is determined by waist circumference and waist-hip ratio measurements and visceral fat area (VFA) that is measured by computed tomography (CT). There is evidence that waist circumference and waist-hip ratio in the Caucasian po...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.99

    authors： Hotta K,Nakamura M,Nakamura T,Matsuo T,Nakata Y,Kamohara S,Miyatake N,Kotani K,Komatsu R,Itoh N,Mineo I,Wada J,Yoneda M,Nakajima A,Funahashi T,Miyazaki S,Tokunaga K,Kawamoto M,Masuzaki H,Ueno T,Hamaguchi K,Tanak

    更新日期：2010-11-01 00:00:00

  • Three hundred twenty-six genetic variations in genes encoding nine members of ATP-binding cassette, subfamily B (ABCB/MDR/TAP), in the Japanese population.

    abstract：:We screened DNAs from 48 Japanese individuals for single-nucleotide polymorphisms (SNPs) in nine genes encoding components of ATP-binding cassette subfamily B (ABCB/MDR/TAP) by directly sequencing the entire applicable genomic regions except for repetitive elements. This approach identified 297 SNPs and 29 insertion/d...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-002-8653-6

    authors： Saito S,Iida A,Sekine A,Miura Y,Ogawa C,Kawauchi S,Higuchi S,Nakamura Y

    更新日期：2002-01-01 00:00:00

  • Detection of high frequency of mutations in a breast and/or ovarian cancer cohort: implications of embracing a multi-gene panel in molecular diagnosis in India.

    abstract：:Breast and/or ovarian cancer (BOC) are among the most frequently diagnosed forms of hereditary cancers and leading cause of death in India. This emphasizes on the need for a cost-effective method for early detection of these cancers. We sequenced 141 unrelated patients and families with BOC using the TruSight Cancer p...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.4

    authors： Mannan AU,Singh J,Lakshmikeshava R,Thota N,Singh S,Sowmya TS,Mishra A,Sinha A,Deshwal S,Soni MR,Chandrasekar A,Ramesh B,Ramamurthy B,Padhi S,Manek P,Ramalingam R,Kapoor S,Ghosh M,Sankaran S,Ghosh A,Veeramachaneni

    更新日期：2016-06-01 00:00:00

  • Mutation in PVRL4 gene encoding nectin-4 underlies ectodermal-dysplasia-syndactyly syndrome (EDSS1).

    abstract：:Ectodermal-dysplasia-syndactyly syndrome (EDSS1) is a rare form of ectodermal dysplasia (ED), affecting skin and its appendages mainly hair, teeth and nails. In the present study, we have investigated a large consanguineous Pakistani family with 10 individuals showing features of EDSS1. Human genome was screened using...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2011.18

    authors： Jelani M,Chishti MS,Ahmad W

    更新日期：2011-05-01 00:00:00

  • Characterization of a VNTR polymorphism in the coding region of the CEL gene.

    abstract：:Human carboxyl ester lipase (CEL) secreted by the pancreas into the duodenum is a glycoprotein playing an essential role in the intestinal processing of cholesterol and lipid-soluble vitamins. The gene encoding CEL was known to contain a tandemly repeated sequence of the 11-amino-acid motif in the C-terminal region. W...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200027

    authors： Higuchi S,Nakamura Y,Saito S

    更新日期：2002-01-01 00:00:00

  • Novel compound heterozygous mutations in the SRD5A2 gene from 46,XY infants with ambiguous external genitalia.

    abstract：:Dihydrotestosterone is crucial for normal development of external genitalia and prostate in the male embryo. Autosomal recessive mutations in the 5 alpha-reductase type 2 (SRD5A2) gene disrupt the synthesis of dihydrotestosterone in the urogenital tract and give rise to genetic males with undervirilized external genit...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-008-0274-2

    authors： Vilchis F,Valdez E,Ramos L,García R,Gómez R,Chávez B

    更新日期：2008-01-01 00:00:00

  • Human calcitonin receptor-like receptor for adrenomedullin: genomic structure, eight single-nucleotide polymorphisms, and haplotype analysis.

    abstract：:Adrenomedullin (ADM), a peptide characterized by persistent hypotensive activity, is thought to be involved when the control mechanism of blood pressure is deranged, because its plasma concentration is upregulated in hypertensive patients. The receptor for ADM, a molecular complex consisting of calcitonin-receptor-lik...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170100

    authors： Nakazawa I,Nakajima T,Harada H,Ishigami T,Umemura S,Emi M

    更新日期：2001-01-01 00:00:00

  • Dinucleotide repeat polymorphism in the first intron of the CSR gene.

    abstract：:The CSR (cellular stress response) gene encodes a protein that structurally resembles the macrophage scavenger receptor, and is a potent regulator of intracellular reactive oxygen intermediates. We found a polymorphic dinucleotide repeat in the first intron of the CSR gene. This polymorphism will be a useful genetic m...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050074

    authors： Han HJ,Nakamura Y

    更新日期：1998-01-01 00:00:00

  • Novel locus for fibrinogen in 3' region of LEPR gene in island population of Vis (Croatia).

    abstract：:Leptin, a possible mediator between energy homeostasis, inflammation and cardiovascular disease (CVD), acts via leptin receptors. We investigated association of single-nucleotide polymorphisms (SNPs) and haplotypes of the leptin receptor gene (LEPR) with several CVD risk factors: body mass index, waist circumference (...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.82

    authors： Tomas Ž,Petranović MZ,Škarić-Jurić T,Barešić A,Salihović MP,Narančić NS

    更新日期：2014-11-01 00:00:00

  • PlexinA polymorphisms mediate the developmental trajectory of human corpus callosum microstructure.

    abstract：:PlexinA is a neuronal receptor protein that facilitates axon guidance during embryogenesis. This gene is associated with several neurological disorders including Alzheimer's disease, Parkinson's disease and autism. However, the effect of variants of PlexinA on brain structure remains unclear. We demonstrate that singl...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2014.107

    authors： Belyk M,Kraft SJ,Brown S,Pediatric Imaging, Neurocognition and Genetics Study.

    更新日期：2015-03-01 00:00:00

  • High-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the entire human DiGeorge syndrome critical region 2 (DGCR2) gene at 22q11.2.

    abstract：:We constructed a high-density single-nucleotide polymorphism (SNP) map in the 96-kb region containing the DiGeorge syndrome critical region 2 (DGCR2) gene at chromosome 22q11.2, a human counterpart of mouse seizure-related gene SEZ-12. A total of 102 SNPs were isolated from the region by systematic screening among 48 ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170029

    authors： Iida A,Ohnishi Y,Ozaki K,Ariji Y,Nakamura Y,Tanaka T

    更新日期：2001-01-01 00:00:00

  • Unique origin of Andaman Islanders: insight from autosomal loci.

    abstract：:Our mtDNA and Y chromosome studies lead to the conclusion that the Andamanese "Negrito" mtDNA lineages have survived in the Andaman Islands in complete genetic isolation from other South and Southeast Asian populations since the initial settlement of the region by the out-of-Africa migration. In order to obtain a robu...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-006-0026-0

    authors： Thangaraj K,Chaubey G,Reddy AG,Singh VK,Singh L

    更新日期：2006-01-01 00:00:00

  • Three novel mutations in the carnitine-acylcarnitine translocase (CACT) gene in patients with CACT deficiency and in healthy individuals.

    abstract：:Carnitine-acylcarnitine translocase (CACT) and carnitine palmitoyltransferase II (CPT2) are key enzymes for transporting long-chain fatty acids into mitochondria. Deficiencies of these enzymes, which are clinically characterized by life-threatening non-ketotic hypoglycemia and rhabdomyolysis, cannot be distinguished b...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2013.103

    authors： Fukushima T,Kaneoka H,Yasuno T,Sasaguri Y,Tokuyasu T,Tokoro K,Fukao T,Saito T

    更新日期：2013-12-01 00:00:00

  • Amplification, up-regulation and over-expression of C3G (CRK SH3 domain-binding guanine nucleotide-releasing factor) in non-small cell lung cancers.

    abstract：:The Ras-CRK-Rap1 cellular signal-transduction system is regulated by guanine nucleotide exchange factors (GEFs). Transcription of C3G on chromosome 9q34 and a key member of the GEF gene family is activated by the CRK-adaptor protein; the C3G product is a CRK SH3 domain-binding guanine nucleotide-releasing factor. We d...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0148-1

    authors： Hirata T,Nagai H,Koizumi K,Okino K,Harada A,Onda M,Nagahata T,Mikami I,Hirai K,Haraguchi S,Jin E,Kawanami O,Shimizu K,Emi M

    更新日期：2004-01-01 00:00:00

  • Association of melanocortin 1 receptor gene (MC1R) polymorphisms with skin reflectance and freckles in Japanese.

    abstract：:Most studies on the genetic basis of human skin pigmentation have focused on people of European ancestry and only a few studies have focused on Asian populations. We investigated the association of skin reflectance and freckling with genetic variants of melanocortin 1 receptor (MC1R) gene in Japanese. DNA samples were...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.96

    authors： Yamaguchi K,Watanabe C,Kawaguchi A,Sato T,Naka I,Shindo M,Moromizato K,Aoki K,Ishida H,Kimura R

    更新日期：2012-11-26 00:00:00

  • EED-associated overgrowth in a second male patient.

    abstract：:Following our discovery that constitutional mutations in EED can cause overgrowth, we screened our cohort of patients with Weaver-like features for mutations in this gene. Here we describe a second patient with a different, rare and de novo mutation in EED. Phenotypic overlap with our first case of EED-associated over...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2016.51

    authors： Cohen AS,Gibson WT

    更新日期：2016-09-01 00:00:00

  • Extreme androgen resistance in a kindred with a novel insertion/deletion mutation in exon 5 of the androgen receptor gene.

    abstract：:Androgen insensitivy syndrome (AIS) is the most frequent cause of male pseudohermaphroditism resulting from target-organ resistance to androgen action. Individuals bearing the complete form of the disease (CAIS) present a female phenotype and a lack of pubic and axillary hair. In the present study, four 46,XY patients...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0036-0

    authors： Vilchis F,Ramos L,Kofman-Alfaro S,Zenteno JC,Méndez JP,Chávez B

    更新日期：2003-01-01 00:00:00

  • Identification of a novel single base-pair polymorphism in the glutamate dehydrogenase (GLUD1) gene.

    abstract：:A novel single base-pair polymorphism, G/A at ntd 955, was identified within the coding region of the glutamate dehydrogenase gene (GLUD1). This polymorphism should prove useful for the study of human disorders with altered ammonia and/or blood glucose levels. ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050158

    authors： Muroi J,Uematsu A,Yorifuji T

    更新日期：1999-01-01 00:00:00

  • A frameshift variant of CYP2C8 was identified in a patient who suffered from rhabdomyolysis after administration of cerivastatin.

    abstract：:A hypercholesterolemic patient medicated with cerivastatin for 22 days resulted in acute rhabdomyolysis. CYP2C8 and CYP3A4 are the major enzymes responsible for the metabolism of cerivastatin, and a transporter, OATP2, contributes to uptake of cerivastatin to the liver. In this study, the patient's DNA was sequenced i...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-004-0188-6

    authors： Ishikawa C,Ozaki H,Nakajima T,Ishii T,Kanai S,Anjo S,Shirai K,Inoue I

    更新日期：2004-01-01 00:00:00

  • Association of variants in genes involved in environmental chemical metabolism and risk of cryptorchidism and hypospadias.

    abstract：:We hypothesized that single-nucleotide polymorphisms (SNPs) of genes involved in environmental endocrine disruptors (EEDs) metabolism might influence the risk of male genital malformations. In this study, we explored for association between 384 SNPs in 15 genes (AHR, AHRR, ARNT, ARNT2, NR1I2, RXRA, RXRB, RXRG, CYP1A1,...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2012.48

    authors： Qin XY,Kojima Y,Mizuno K,Ueoka K,Massart F,Spinelli C,Zaha H,Okura M,Yoshinaga J,Yonemoto J,Kohri K,Hayashi Y,Ogata T,Sone H

    更新日期：2012-07-01 00:00:00

  • Human endogenous retroviruses with transcriptional potential in the brain.

    abstract：:Genetic studies of neuropsychiatric disorders have often produced conflicting results, which might partly result from the involvement of epigenetic modifications. We intended to explore the possible implication of DNA methylation and human endogenous retroviruses (HERVs) in neuropsychiatric disorders. In the present s...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s10038-003-0081-8

    authors： Nakamura A,Okazaki Y,Sugimoto J,Oda T,Jinno Y

    更新日期：2003-01-01 00:00:00

  • Positional cloning and comprehensive mutation analysis identified a novel KDM2B mutation in a Japanese family with minor malformations, intellectual disability, and schizophrenia.

    abstract：:The importance of epigenetic control in the development of the central nervous system has recently been attracting attention. Methylation patterns of lysine 4 and lysine 36 in histone H3 (H3K4 and H3K36) in the central nervous system are highly conserved among species. Numerous complications of body malformations and ...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/s10038-020-00889-4

    authors： Yokotsuka-Ishida S,Nakamura M,Tomiyasu Y,Nagai M,Kato Y,Tomiyasu A,Umehara H,Hayashi T,Sasaki N,Ueno SI,Sano A

    更新日期：2021-01-06 00:00:00

  • Adult onset limb-girdle type mitochondrial myopathy with a mitochondrial DNA np8291 A-to-G substitution.

    abstract：:We analyzed mitochondrial DNA (mtDNA) from 7 patients in four families with adult onset limb-girdle type mitochondrial myopathy to clarify their genetic background. The patients, 2 men and 5 women, showed common clinical features, characterized by isolated skeletal myopathy, high serum creatine kinase level, ragged-re...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380050145

    authors： Hirata K,Nakagawa M,Higuchi I,Hashimoto K,Hanada K,Takahashi K,Niiyama T,Izumi K,Sakoda S,Yamada H,Osame M

    更新日期：1999-01-01 00:00:00

  • Tissue-specific differentially methylated regions of the human VASA gene are potentially associated with maturation arrest phenotype in the testis.

    abstract：:Numerous CpG islands containing tissue-specific differentially methylated regions (TDMRs) are potential methylation sites in normal cells and tissues. The VASA (also known as DDX4) gene is believed to be under the control of TDMRs. A total of 131 male patients with idiopathic azoospermia or severe oligospermia were ev...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2009.59

    authors： Sugimoto K,Koh E,Sin HS,Maeda Y,Narimoto K,Izumi K,Kobori Y,Kitamura E,Nagase H,Yoshida A,Namiki M

    更新日期：2009-08-01 00:00:00

  • A functional polymorphism (-603A --> G) in the tissue factor gene promoter is associated with adult-onset asthma.

    abstract：:Tissue factor (TF) is important for initiation of coagulation and for the increased thrombin activity observed at sites of inflammation. Thrombin activity is induced by allergen challenge in asthmatic airways and is involved in the pathogenesis of asthma. A -603A --> G polymorphism (rs1361600) in the promoter region o...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1038/jhg.2010.4

    authors： Isada A,Konno S,Hizawa N,Tamari M,Hirota T,Harada M,Maeda Y,Hattori T,Takahashi A,Nishimura M

    更新日期：2010-03-01 00:00:00

  • DNA polymorphisms in ITPA including basis of inosine triphosphatase deficiency.

    abstract：:Intracellular concentrations of the nucleotide inosine triphosphate (ITP) are regulated by ITP-ase (EC 3.6.1.19), which is encoded by ITPA on chromosome 20p. Subjects with complete deficiency of ITP-ase activity (MIM 147520) have elevated ITP concentrations in erythrocytes, but no obvious clinical abnormalities. Based...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380200095

    authors： Cao H,Hegele RA

    更新日期：2002-01-01 00:00:00

  • Search for active endogenous retroviruses: identification and characterization of a HERV-E gene that is expressed in the pancreas and thyroid.

    abstract：:To elucidate possible physiological functions of human endogenous retroviruses (HERVs) and their role in the pathogenesis of human diseases, we have developed a strategy to identify transcriptionally active HERV genes. By this approach, we have identified and isolated an active HERV-E gene that was mapped to 17q11. Al...

    journal_title：Journal of human genetics

    pub_type： 杂志文章

    doi：10.1007/s100380170012

    authors： Shiroma T,Sugimoto J,Oda T,Jinno Y,Kanaya F

    更新日期：2001-01-01 00:00:00