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American Journal of Medical Genetics. Part A
|
April 27, 2004
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA
Brandy A Wicklow, Jennifer L Ivanovich, Margot M Plews, et al.
The Journal of Biological Chemistry
|
September 15, 2009
Prion-induced activation of cholesterogenic gene expression by Srebp2 in neuronal cells
Christian Bach, Sabine Gilch, Romina Rost, et al.
Nature
|
January 30, 2010
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology
Thomas Kirkegaard, Anke G Roth, Nikolaj H T Petersen, et al.
Genomics
|
February 7, 2002
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes
Chi-Ming Li, Jae-Ho Park, Calogera M Simonaro, et al.
Nature Communications
|
January 20, 2011
PAR2 absence completely rescues inflammation and ichthyosis caused by altered CAP1/Prss8 expression in mouse skin
Simona Frateschi, Eric Camerer, Giovanna Crisante, et al.
The Journal of Biological Chemistry
|
March 5, 2017
Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease
Sophie Schonauer, Heinz G Körschen, Anke Penno, et al.
Angewandte Chemie (International Ed. in English)
|
April 6, 2017
Synthetic Glycoforms Reveal Carbohydrate-Dependent Bioactivity of Human Saposin D
Christopher G F Graf, Christian Schulz, Marina Schmälzlein, et al.
Orphanet Journal of Rare Diseases
|
September 28, 2013
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
Yildiz Yildiz, Per Hoffmann, Stefan Vom Dahl, et al.
Journal of Lipid Research
|
August 3, 2005
A novel mass spectrometric assay for the cerebroside sulfate activator protein (saposin B) and arylsulfatase A
Andrew J Norris, Julian P Whitelegge, Arman Yaghoubian, et al.
EMBO Molecular Medicine
|
February 8, 2014
Activation of Nrf2 in keratinocytes causes chloracne (MADISH)-like skin disease in mice
Matthias Schäfer, Ann-Helen Willrodt, Svitlana Kurinna, et al.
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of 13
Search research articles
Search
Showing results (111-120 of 121) with videos related to
Sort By:
Page
of 13
American Journal of Medical Genetics. Part A
|
April 27, 2004
Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA
Brandy A Wicklow, Jennifer L Ivanovich, Margot M Plews, et al.
The Journal of Biological Chemistry
|
September 15, 2009
Prion-induced activation of cholesterogenic gene expression by Srebp2 in neuronal cells
Christian Bach, Sabine Gilch, Romina Rost, et al.
Nature
|
January 30, 2010
Hsp70 stabilizes lysosomes and reverts Niemann-Pick disease-associated lysosomal pathology
Thomas Kirkegaard, Anke G Roth, Nikolaj H T Petersen, et al.
Genomics
|
February 7, 2002
Insertional mutagenesis of the mouse acid ceramidase gene leads to early embryonic lethality in homozygotes and progressive lipid storage disease in heterozygotes
Chi-Ming Li, Jae-Ho Park, Calogera M Simonaro, et al.
Nature Communications
|
January 20, 2011
PAR2 absence completely rescues inflammation and ichthyosis caused by altered CAP1/Prss8 expression in mouse skin
Simona Frateschi, Eric Camerer, Giovanna Crisante, et al.
The Journal of Biological Chemistry
|
March 5, 2017
Identification of a feedback loop involving β-glucosidase 2 and its product sphingosine sheds light on the molecular mechanisms in Gaucher disease
Sophie Schonauer, Heinz G Körschen, Anke Penno, et al.
Angewandte Chemie (International Ed. in English)
|
April 6, 2017
Synthetic Glycoforms Reveal Carbohydrate-Dependent Bioactivity of Human Saposin D
Christopher G F Graf, Christian Schulz, Marina Schmälzlein, et al.
Orphanet Journal of Rare Diseases
|
September 28, 2013
Functional and genetic characterization of the non-lysosomal glucosylceramidase 2 as a modifier for Gaucher disease
Yildiz Yildiz, Per Hoffmann, Stefan Vom Dahl, et al.
Journal of Lipid Research
|
August 3, 2005
A novel mass spectrometric assay for the cerebroside sulfate activator protein (saposin B) and arylsulfatase A
Andrew J Norris, Julian P Whitelegge, Arman Yaghoubian, et al.
EMBO Molecular Medicine
|
February 8, 2014
Activation of Nrf2 in keratinocytes causes chloracne (MADISH)-like skin disease in mice
Matthias Schäfer, Ann-Helen Willrodt, Svitlana Kurinna, et al.
Page
of 13