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dominant vimentin mutant upregulates Hsp70 and the activity of the ubiquitin-proteasome system, and causes posterior cataracts in transgenic mice

Journal of cell science, 2008-11, Vol.121 (22), p.3737-3746

2008

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Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

American journal of human genetics, 2006-03, Vol.78 (3), p.510-519

2006

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Down-regulation of Polysialic Acid Is Required for Efficient Myelin Formation

The Journal of biological chemistry, 2007-06, Vol.282 (22), p.16700-16711

2007

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Connexin 47 (Cx47)-Deficient Mice with Enhanced Green Fluorescent Protein Reporter Gene Reveal Predominant Oligodendrocytic Expression of Cx47 and Display Vacuolized Myelin in the CNS

The Journal of neuroscience, 2003-06, Vol.23 (11), p.4549-4559

2003

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Functional expression of connexin57 in horizontal cells of the mouse retina

The European journal of neuroscience, 2004-05, Vol.19 (10), p.2633-2640

2004

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Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice

Molecular biology of the cell, 2001-06, Vol.12 (6), p.1557-1568

2001

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Functional Integration of Embryonic Stem Cell-Derived Neurons In Vivo

The Journal of neuroscience, 2004-06, Vol.24 (22), p.5258-5268

2004

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Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex

Molecular biology of the cell, 2001-06, Vol.12 (6), p.1775-1789

2001

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Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration

The Journal of neuroscience, 2008-09, Vol.28 (39), p.9741-9754

2008

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Early Onset of Axonal Degeneration in Double (plp-/-mag-/-) and Hypomyelinosis in Triple (plp-/-mbp-/-mag-/-) Mutant Mice

The Journal of neuroscience, 2000-07, Vol.20 (14), p.5225-5233

2000

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Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: Myelination and development

Glia, 2002-01, Vol.37 (1), p.19-30

2002

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Alopecia and male infertility in oligotriche mutant mice are caused by a deletion on distal chromosome 9

Mammalian genome, 2008-12, Vol.19 (10-12), p.691-702

2008

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Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71rco12 and Krt71rco13

Mammalian genome, 2006-12, Vol.17 (12), p.1172-1182

2006

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Expression pattern and functional characterization of connexin29 in transgenic mice

Glia, 2006-04, Vol.53 (6), p.601-611

2006

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Oligodendrocyte-specific ceramide galactosyltransferase (CGT) expression phenotypically rescues CGT-deficient mice and demonstrates that CGT activity does not limit brain galactosylceramide level

Glia, 2005-11, Vol.52 (3), p.190-198

2005

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A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy

Journal of neuroscience methods, 2007-04, Vol.161 (2), p.223-233

2007

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Keratin 5 knockout mice reveal plasticity of keratin expression in the corneal epithelium

European journal of cell biology, 2006-08, Vol.85 (8), p.803-811

2006

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Exocytosis of storage material in a lysosomal disorder

Biochemical and biophysical research communications, 2005-02, Vol.327 (3), p.663-667

2005

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Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum

The FEBS journal, 2005-03, Vol.272 (5), p.1179-1188

2005

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Reversal of non‐hydroxy : α‐hydroxy galactosylceramide ratio and unstable myelin in transgenic mice overexpressing UDP‐galactose : ceramide galactosyltransferase

Journal of neurochemistry, 2005-07, Vol.94 (2), p.469-481

2005

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Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths

The Journal of neuroscience, 1995-08, Vol.15 (8), p.5502-5513

1995

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Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25

Mammalian genome, 2006-03, Vol.17 (3), p.203-210

2006

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Missense mutations as a cause of metachromatic leukodystrophy

The FEBS journal, 2005-03, Vol.272 (5), p.1179-1188

2005

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Reversal of non-hydroxy : [alpha]-hydroxy galactosylceramide ratio and unstable myelin in transgenic mice overexpressing UDP-galactose : ceramide galactosyltransferase

Journal of neurochemistry, 2005-07, Vol.94 (2), p.469

2005

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Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13

Mammalian genome, 2006-12, Vol.17 (12), p.1172-1182

2006

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dominant vimentin mutant upregulates Hsp70 and the activity of the ubiquitin-proteasome system, and causes posterior cataracts in transgenic mice

Loss-of-Function Mutations in the Keratin 5 Gene Lead to Dowling-Degos Disease

Down-regulation of Polysialic Acid Is Required for Efficient Myelin Formation

Connexin 47 (Cx47)-Deficient Mice with Enhanced Green Fluorescent Protein Reporter Gene Reveal Predominant Oligodendrocytic Expression of Cx47 and Display Vacuolized Myelin in the CNS

Functional expression of connexin57 in horizontal cells of the mouse retina

Formation of a normal epidermis supported by increased stability of keratins 5 and 14 in keratin 10 null mice

Functional Integration of Embryonic Stem Cell-Derived Neurons In Vivo

Complete cytolysis and neonatal lethality in keratin 5 knockout mice reveal its fundamental role in skin integrity and in epidermolysis bullosa simplex

Absence of 2-Hydroxylated Sphingolipids Is Compatible with Normal Neural Development But Causes Late-Onset Axon and Myelin Sheath Degeneration

Early Onset of Axonal Degeneration in Double (plp-/-mag-/-) and Hypomyelinosis in Triple (plp-/-mbp-/-mag-/-) Mutant Mice

Oligodendrocytes expressing exclusively the DM20 isoform of the proteolipid protein gene: Myelination and development

Alopecia and male infertility in oligotriche mutant mice are caused by a deletion on distal chromosome 9

Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71rco12 and Krt71rco13

Expression pattern and functional characterization of connexin29 in transgenic mice

Oligodendrocyte-specific ceramide galactosyltransferase (CGT) expression phenotypically rescues CGT-deficient mice and demonstrates that CGT activity does not limit brain galactosylceramide level

A spontaneously immortalized Schwann cell line to study the molecular aspects of metachromatic leukodystrophy

Keratin 5 knockout mice reveal plasticity of keratin expression in the corneal epithelium

Exocytosis of storage material in a lysosomal disorder

Missense mutations as a cause of metachromatic leukodystrophy. Degradation of arylsulfatase A in the endoplasmic reticulum

Reversal of non‐hydroxy : α‐hydroxy galactosylceramide ratio and unstable myelin in transgenic mice overexpressing UDP‐galactose : ceramide galactosyltransferase

Adhesive properties of proteolipid protein are responsible for the compaction of CNS myelin sheaths

Grey, a novel mutation in the murine Lyst gene, causes the beige phenotype by skipping of exon 25

Missense mutations as a cause of metachromatic leukodystrophy

Reversal of non-hydroxy : [alpha]-hydroxy galactosylceramide ratio and unstable myelin in transgenic mice overexpressing UDP-galactose : ceramide galactosyltransferase

Morphologic and molecular characterization of two novel Krt71 (Krt2-6g) mutations: Krt71 rco12 and Krt71 rco13

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