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Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy

Current molecular medicine, 2015-01, Vol.15 (2), p.138

2015

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The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

The Journal of clinical investigation, 2001-02, Vol.107 (4), p.495-504

2001

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Splice-Mediated Insertion of an Alu Sequence Inactivates Ornithine δ-Aminotransferase: A Role for Alu Elements in Human Mutation

Proceedings of the National Academy of Sciences - PNAS, 1991-02, Vol.88 (3), p.815-819

1991

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Nature genetics, 1997-04, Vol.15 (4), p.369-376

1997

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Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences

The Journal of biological chemistry, 1992-02, Vol.267 (5), p.3302-3307

1992

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Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Nature genetics, 1999-06, Vol.22 (2), p.151-158

1999

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Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Human mutation, 2002-10, Vol.20 (4), p.284-297

2002

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Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis

American journal of human genetics, 2005-06, Vol.76 (6), p.987-1007

2005

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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

Human molecular genetics, 2000-11, Vol.9 (19), p.2853-2858

2000

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At Least Two Mutant Alleles of Ornithine δ -aminotransferase Cause Gyrate Atrophy of the Choroid and Retina in Finns

Proceedings of the National Academy of Sciences - PNAS, 1989-01, Vol.86 (1), p.197-201

1989

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Restoration of peroxisome biogenesis in a peroxisome‐deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins

Journal of inherited metabolic disease, 1994-05, Vol.17 (3), p.327-329

1994

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A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)

Human molecular genetics, 1992-11, Vol.1 (8), p.654-654

1992

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Molecular Enzymology of Mammalian Delta super(1)-Pyrroline-5-carboxylate Synthase: Alternative Splice Donor Utilization Generates Isoforms with Different Sensitivity to Ornithine Inhibition

The Journal of biological chemistry, 1999-03, Vol.274 (10), p.6754-6762

1999

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Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition

The Journal of biological chemistry, 1999-03, Vol.274 (10), p.6754-6762

1999

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NVL: A New Member of the AAA Family of ATPases Localized to the Nucleus

Genomics (San Diego, Calif.), 1997-08, Vol.44 (1), p.22-34

1997

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Pyridoxine-responsive gyrate atrophy of the choroid and retina : clinical and biochemical correlates of the mutation A226V

American journal of human genetics, 1995-03, Vol.56 (3), p.616-622

1995

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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta super(1)-pyrroline-5-carboxylate synthase

Human molecular genetics, 2000-11, Vol.9 (19), p.2853-2858

2000

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Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70

European journal of cell biology, 1998-08, Vol.76 (4), p.237-245

1998

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Mutations in the gene encoding 3 beta -hydroxysteroid- Delta super(8), Delta super(7)-isomerase cause X-linked dominant Conradi-Huenermann syndrome

Nature genetics, 1999-07, Vol.22 (3), p.291-294

1999

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Mutations in the gene encoding 3β-hydroxysteroid-Δ8, Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

Nature genetics, 1999-07, Vol.22 (3), p.291-294

1999

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Mutations in the gene encoding 3β- hydroxysteroid-Δ 8 ,Δ 7 - isomerase cause X-linked dominant Conradi-Hünermann syndrome

Nature genetics, 1999-07, Vol.22 (3), p.291-294

1999

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Hyperornithinaemia-hyperammonaelina-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Nature genetics, 1999, Vol.22 (2), p.151-158

1999

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Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli

The Journal of biological chemistry, 1998-11, Vol.273 (45), p.29607-29614

1998

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Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

Human molecular genetics, 1998-09, Vol.7 (9), p.1411-1415

1998

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Mutations in the Δ1-Pyrroline 5-Carboxylate Dehydrogenase Gene Cause Type II Hyperprolinemia

Human molecular genetics, 1998-09, Vol.7 (9), p.1411-1415

1998

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Clinical utility of neuronal cells directly converted from fibroblasts of patients for neuropsychiatric disorders: studies of lysosomal storage diseases and channelopathy

The molecular basis of human 3-methylcrotonyl-CoA carboxylase deficiency

Splice-Mediated Insertion of an Alu Sequence Inactivates Ornithine δ-Aminotransferase: A Role for Alu Elements in Human Mutation

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata

Ornithine delta-aminotransferase mutations in gyrate atrophy. Allelic heterogeneity and functional consequences

Hyperornithinaemia- hyperammonaemia- homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Mutation analysis of PEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

Alternative Splicing Suggests Extended Function of PEX26 in Peroxisome Biogenesis

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding delta(1)-pyrroline-5-carboxylate synthase

At Least Two Mutant Alleles of Ornithine δ -aminotransferase Cause Gyrate Atrophy of the Choroid and Retina in Finns

Restoration of peroxisome biogenesis in a peroxisome‐deficient mammalian cell line by expression of either the 35 kDa or the 70 kDa peroxisomal membrane proteins

A polymorphic synonymous mutation (K54K) in the human 70 kD peroxisomal membrane protein gene (PMP1)

Molecular Enzymology of Mammalian Delta super(1)-Pyrroline-5-carboxylate Synthase: Alternative Splice Donor Utilization Generates Isoforms with Different Sensitivity to Ornithine Inhibition

Molecular enzymology of mammalian Delta1-pyrroline-5-carboxylate synthase. Alternative splice donor utilization generates isoforms with different sensitivity to ornithine inhibition

NVL: A New Member of the AAA Family of ATPases Localized to the Nucleus

Pyridoxine-responsive gyrate atrophy of the choroid and retina : clinical and biochemical correlates of the mutation A226V

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Delta super(1)-pyrroline-5-carboxylate synthase

Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70

Mutations in the gene encoding 3 beta -hydroxysteroid- Delta super(8), Delta super(7)-isomerase cause X-linked dominant Conradi-Huenermann syndrome

Mutations in the gene encoding 3β-hydroxysteroid-Δ8, Δ7-isomerase cause X-linked dominant Conradi-Hünermann syndrome

Mutations in the gene encoding 3β- hydroxysteroid-Δ 8 ,Δ 7 - isomerase cause X-linked dominant Conradi-Hünermann syndrome

Hyperornithinaemia-hyperammonaelina-homocitrullinuria syndrome is caused by mutations in a gene encoding a mitochondrial ornithine transporter

Expression of PEX11beta mediates peroxisome proliferation in the absence of extracellular stimuli

Mutations in the Delta1-pyrroline 5-carboxylate dehydrogenase gene cause type II hyperprolinemia

Mutations in the Δ1-Pyrroline 5-Carboxylate Dehydrogenase Gene Cause Type II Hyperprolinemia

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