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Effects of a GTP-insensitive Mutation of Glutamate Dehydrogenase on Insulin Secretion in Transgenic Mice

The Journal of biological chemistry, 2006-06, Vol.281 (22), p.15064-15072

2006

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Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency : Clinical course and description of causal mutations in two patients

Pediatric research, 2001-03, Vol.49 (3), p.326-331

2001

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Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

The New England journal of medicine, 1998-05, Vol.338 (19), p.1352-1357

1998

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Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

The journal of clinical endocrinology and metabolism, 2001-04, Vol.86 (4), p.1782-1787

2001

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Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome

The Journal of pediatrics, 2001-03, Vol.138 (3), p.383-389

2001

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Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene

Diabetes (New York, N.Y.), 2000-04, Vol.49 (4), p.667

2000

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Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase1

The journal of clinical endocrinology and metabolism, 2001-04, Vol.86 (4), p.1782-1787

2001

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Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations

Biochemical journal, 2002-04, Vol.363 (Pt 1), p.81-87

2002

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Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Molecular genetics and metabolism, 2002-11, Vol.77 (3), p.195-201

2002

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Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

The New England journal of medicine, 1997-10, Vol.337 (17), p.1203-1207

1997

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Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations

Biochemical journal, 2002-04, Vol.363 (1), p.81-87

2002

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Hyperinsulinism/Hyperammonemia Syndrome: Expression and Characterization of Mutant Glutamate Dehydrogenase

Diabetes (New York, N.Y.), 2000-05, Vol.49 (5), p.A213

2000

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Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases

American journal of physiology: endocrinology and metabolism, 1997-03, Vol.35 (3), p.E359-E366

1997

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“Leucine Sensitive Hypoglycemia” Caused by a Dominantly-inherited Mutation of Glutamate Dehydrogenase • 442

Pediatric research, 1998-04, Vol.43, p.78-78

1998

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Developmental Aspects of Proline Transport in Rat Renal Brush Border Membranes

Proceedings of the National Academy of Sciences - PNAS, 1986-10, Vol.83 (19), p.7561-7564

1986

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Characteristics of L-proline and sodium transport in renal brush border membranes isolated from 7-day-old and adult rats

Bioscience reports, 1989-12, Vol.9 (6), p.709-719

1989

Volltextzugriff (PDF)

Absence of a role of gamma-glutamyl transpeptidase in the transport of amino acids by rat renal brushborder membrane vesicles

The Journal of membrane biology, 1984, Vol.80 (2), p.167-173

1984

Volltextzugriff (PDF)

Dual targeted extracellular vesicles regulate oncogenic genes in advanced pancreatic cancer

Nature communications, 2023-10, Vol.14 (1), p.6692-6692, Article 6692

2023

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Chondrogenesis from human placenta-derived mesenchymal stem cells in three-dimensional scaffolds for cartilage tissue engineering

Tissue engineering. Part A, 2011-06, Vol.17 (11-12), p.1549

2011

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Distribution of Epstein‐Barr viral load in serum of individuals from nasopharyngeal carcinoma high‐risk families in Taiwan

International journal of cancer, 2006-02, Vol.118 (3), p.780-784

2006

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Sudden neonatal death in carnitine transporter deficiency

The Journal of pediatrics, 1997-08, Vol.131 (2), p.304-305

1997

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Allelotype and loss of heterozygosity of p53 in primary and recurrent hepatocellular carcinomas. A study of 150 patients

Cancer, 1994-01, Vol.73 (1), p.42-47

1994

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Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome

Metabolism, clinical and experimental, 1994-09, Vol.43 (9), p.1073-1078

1994

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Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome

Metabolism, clinical and experimental, 1992-03, Vol.41 (3), p.253-259

1992

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Effects of a GTP-insensitive Mutation of Glutamate Dehydrogenase on Insulin Secretion in Transgenic Mice

Mitochondrial 3-hydroxy-3-methylglutaryl-CoA synthase deficiency : Clinical course and description of causal mutations in two patients

Hyperinsulinism and Hyperammonemia in Infants with Regulatory Mutations of the Glutamate Dehydrogenase Gene

Hyperinsulinism/hyperammonemia syndrome in children with regulatory mutations in the inhibitory guanosine triphosphate-binding domain of glutamate dehydrogenase

Protein-sensitive and fasting hypoglycemia in children with the hyperinsulinism/hyperammonemia syndrome

Molecular basis and characterization of the hyperinsulinism/hyperammonemia syndrome: Predominance of mutations in exons 11 and 12 of the glutamate dehydrogenase gene

Hyperinsulinism/Hyperammonemia Syndrome in Children with Regulatory Mutations in the Inhibitory Guanosine Triphosphate-Binding Domain of Glutamate Dehydrogenase1

Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations

Carnitine membrane transporter deficiency: a long-term follow up and OCTN2 mutation in the first documented case of primary carnitine deficiency

Fasting Hypoketotic Coma in a Child with Deficiency of Mitochondrial 3-Hydroxy-3-Methylglutaryl-CoA Synthase

Expression, purification and characterization of human glutamate dehydrogenase (GDH) allosteric regulatory mutations

Hyperinsulinism/Hyperammonemia Syndrome: Expression and Characterization of Mutant Glutamate Dehydrogenase

Carnitine effects on coenzyme A profiles in rat liver with hypoglycin inhibition of multiple dehydrogenases

“Leucine Sensitive Hypoglycemia” Caused by a Dominantly-inherited Mutation of Glutamate Dehydrogenase • 442

Developmental Aspects of Proline Transport in Rat Renal Brush Border Membranes

Characteristics of L-proline and sodium transport in renal brush border membranes isolated from 7-day-old and adult rats

Absence of a role of gamma-glutamyl transpeptidase in the transport of amino acids by rat renal brushborder membrane vesicles

Dual targeted extracellular vesicles regulate oncogenic genes in advanced pancreatic cancer

Chondrogenesis from human placenta-derived mesenchymal stem cells in three-dimensional scaffolds for cartilage tissue engineering

Distribution of Epstein‐Barr viral load in serum of individuals from nasopharyngeal carcinoma high‐risk families in Taiwan

Common trisomy mosaicism diagnosed in amniocytes involving chromosomes 13, 18, 20 and 21: karyotype-phenotype correlations

Sudden neonatal death in carnitine transporter deficiency

Allelotype and loss of heterozygosity of p53 in primary and recurrent hepatocellular carcinomas. A study of 150 patients

Renal brush border membrane lipid composition in Basenji dogs with spontaneous idiopathic Fanconi syndrome

Membrane fluidity and sodium transport by renal membranes from dogs with spontaneous idiopathic Fanconi syndrome

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