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Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities

Neuroscience research, 2015-12, Vol.101, p.57-61

2015

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Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis

Molecular and cellular biochemistry, 2007-01, Vol.295 (1-2), p.85-92

2007

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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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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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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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Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis

Molecular and cellular biochemistry, 2007-01, Vol.295 (1-2), p.85-92

2007

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A proposed cell-based high-throughput screening assay to identify potential small molecules agents for treatment of Krabbe disease

Molecular genetics and metabolism, 2011-02, Vol.102 (2), p.S27-S28

2011

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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.138-145

2015

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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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Expression of PEX11β 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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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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Developing of cell-based high-throughput screening assay for the identification of potential therapeutic small molecules for metachromatic leukodystrophy

Molecular genetics and metabolism, 2011-02, Vol.102 (2), p.S27-S27

2011

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Neuregulin 3 Knockout Mice Exhibit Behaviors Consistent with Psychotic Disorders

Complex psychiatry, 2016-07, Vol.2 (2), p.79-87

2016

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Mutation analysis ofPEX7 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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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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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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Molecular Enzymology of Mammalian Î1-Pyrroline-5-carboxylate Synthase

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

1999

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Molecular Enzymology of Mammalian Δ1-Pyrroline-5-carboxylate Synthase

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

1999

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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

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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Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ1-pyrroline-5-carboxylate synthase

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

2000

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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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Expression of PEX11Î² Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli

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

1998

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Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593

Pediatric research, 1997-04, Vol.41, p.101-101

1997

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Enhanced conversion of induced neuronal cells (iN cells) from human fibroblasts: Utility in uncovering cellular deficits in mental illness-associated chromosomal abnormalities

Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis

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

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

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

Overexpression of proline oxidase induces proline-dependent and mitochondria-mediated apoptosis

A proposed cell-based high-throughput screening assay to identify potential small molecules agents for treatment of Krabbe disease

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

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

Expression of PEX11β Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli

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

Developing of cell-based high-throughput screening assay for the identification of potential therapeutic small molecules for metachromatic leukodystrophy

Neuregulin 3 Knockout Mice Exhibit Behaviors Consistent with Psychotic Disorders

Mutation analysis ofPEX7 in 60 probands with rhizomelic chondrodysplasia punctata and functional correlations of genotype with phenotype

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

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

Molecular Enzymology of Mammalian Î1-Pyrroline-5-carboxylate Synthase

Molecular Enzymology of Mammalian Δ1-Pyrroline-5-carboxylate Synthase

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

Restoration of PEX2 peroxisome assembly defects by overexpression of PMP70

Hyperammonemia with reduced ornithine, citrulline, arginine and proline: a new inborn error caused by a mutation in the gene encoding Δ1-pyrroline-5-carboxylate synthase

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

Expression of PEX11Î² Mediates Peroxisome Proliferation in the Absence of Extracellular Stimuli

Human PEX7 encodes the peroxisomal PTS2 receptor and is responsible for rhizomelic chondrodysplasia punctata (RCDP). • 593

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