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Laminin-α4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

Circulation (New York, N.Y.), 2007-07, Vol.116 (5), p.515-525

2007

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Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data

Molecular genetics and metabolism reports, 2024-03, Vol.38, p.101053-101053, Article 101053

2024

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RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

Nature genetics, 2009-07, Vol.41 (7), p.773-775

2009

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Structure and activity of the only human RNase T2

Nucleic acids research, 2012-09, Vol.40 (17), p.8733

2012

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LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders

Metabolites, 2021-05, Vol.11 (6), p.347

2021

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Metabolomic Profiling in Patients with Different Hemodynamic Subtypes of Severe Aortic Valve Stenosis

Biomolecules (Basel, Switzerland), 2023-01, Vol.13 (1), p.95

2023

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Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA

Acta crystallographica. Section D, Biological crystallography., 2014-05, Vol.70 (5), p.1321-1335

2014

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The cystine knot of a squash-type protease inhibitor as a structural scaffold for Escherichia coli cell surface display of conformationally constrained peptides

Protein engineering, 1999-09, Vol.12 (9), p.797-806

1999

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Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma

American journal of medical genetics. Part A, 2010-11, Vol.152A (11), p.2845-2849

2010

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Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1tm1Kds mice and X‐linked adrenoleukodystrophy patients

Journal of inherited metabolic disease, 2021-09, Vol.44 (5), p.1174-1185

2021

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Semaphorin 3C exacerbates liver fibrosis

Hepatology (Baltimore, Md.), 2023-10, Vol.78 (4), p.1092-1105

2023

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Metal Alkoxides as Versatile Precursors for Group 4 Phosphonates: Synthesis and X-ray Structure of a Novel Organosoluble Zirconium Phosphonate

Inorganic chemistry, 2000-01, Vol.39 (1), p.23-26

2000

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Cln5 represents a new type of cysteine-based S -depalmitoylase linked to neurodegeneration

Science advances, 2022-04, Vol.8 (15), p.eabj8633-eabj8633

2022

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Different expression of the catalytic alpha subunits of the AMP activated protein kinase--an immunohistochemical study in human tissue

Histology and histopathology, 2011-05, Vol.26 (5), p.589

2011

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A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy

American journal of medical genetics. Part A, 2017-10, Vol.173 (10), p.2803-2807

2017

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The homeodomain of PAX6 is essential for PAX6-dependent activation of the rat glucagon gene promoter: Evidence for a PH0-like binding that induces an active conformation

Biochimica et biophysica acta, 2009-05, Vol.1789 (5), p.403-412

2009

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Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders

JIMD Reports - Case and Research Reports, 2011/1, 2011-01, Vol.1, p.29-36

2011

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A peroxisome proliferator-activated receptor gamma-retinoid X receptor heterodimer physically interacts with the transcriptional activator PAX6 to inhibit glucagon gene transcription

Molecular pharmacology, 2008-02, Vol.73 (2), p.509-517

2008

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Synthesis of Formacetal-Linked Dinucleotides to Facilitate dsDNA Bending and Binding to the Homeodomain of Pax6

European Journal of Organic Chemistry, 2008-04, Vol.2008 (12), p.2100-2106

2008

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Sequence Requirements of the GPNG β-Turn of the Ecballium elaterium Trypsin Inhibitor II Explored by Combinatorial Library Screening

The Journal of biological chemistry, 1999-07, Vol.274 (30), p.21037-21043

1999

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Structure of Ecballium elaterium trypsin inhibitor II (EETI-II): a rigid molecular scaffold

Acta crystallographica. Section D, Biological crystallography., 2005-09, Vol.61 (9), p.1255-1262

2005

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Structure of viscotoxin A3: disulfide location from weak SAD data

Acta crystallographica. Section D, Biological crystallography., 2003-12, Vol.59 (12), p.2125-2132

2003

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Abstract 1103: Integrin-linked Kinase and Laminin alpha 4 Mutations Cause Human Cardiomyopathy

Circulation (New York, N.Y.), 2007-10, Vol.116 (suppl_16)

2007

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Synthesis and Structural Characterization of Functionalized Dimeric Aluminophosphonates and a Monomeric Gallophosphonate Anion

Inorganic chemistry, 2001-05, Vol.40 (11), p.2620-2624

2001

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First Structurally Characterized Organometallic Chloro Oxo−Peroxo Compounds of Molybdenum and Tungsten

Organometallics, 1999-01, Vol.18 (1), p.106-108

1999

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Laminin-α4 and integrin-linked kinase mutations cause human cardiomyopathy via simultaneous defects in cardiomyocytes and endothelial cells

Long term follow-up in GAMT deficiency – Correlation of therapy regimen, biochemical and in vivo brain proton MR spectroscopy data

RNASET2-deficient cystic leukoencephalopathy resembles congenital cytomegalovirus brain infection

Structure and activity of the only human RNase T2

LC-MS Based Platform Simplifies Access to Metabolomics for Peroxisomal Disorders

Metabolomic Profiling in Patients with Different Hemodynamic Subtypes of Severe Aortic Valve Stenosis

Structure of sulfamidase provides insight into the molecular pathology of mucopolysaccharidosis IIIA

The cystine knot of a squash-type protease inhibitor as a structural scaffold for Escherichia coli cell surface display of conformationally constrained peptides

Typical cMRI pattern as diagnostic clue for D‐bifunctional protein deficiency without apparent biochemical abnormalities in plasma

Targeted metabolomics revealed changes in phospholipids during the development of neuroinflammation in Abcd1tm1Kds mice and X‐linked adrenoleukodystrophy patients

Semaphorin 3C exacerbates liver fibrosis

Metal Alkoxides as Versatile Precursors for Group 4 Phosphonates: Synthesis and X-ray Structure of a Novel Organosoluble Zirconium Phosphonate

Cln5 represents a new type of cysteine-based S -depalmitoylase linked to neurodegeneration

Different expression of the catalytic alpha subunits of the AMP activated protein kinase--an immunohistochemical study in human tissue

A new CUL4B variant associated with a mild phenotype and an exceptional pattern of leukoencephalopathy

The homeodomain of PAX6 is essential for PAX6-dependent activation of the rat glucagon gene promoter: Evidence for a PH0-like binding that induces an active conformation

Lymphoblastoid Cell Lines for Diagnosis of Peroxisome Biogenesis Disorders

A peroxisome proliferator-activated receptor gamma-retinoid X receptor heterodimer physically interacts with the transcriptional activator PAX6 to inhibit glucagon gene transcription

Synthesis of Formacetal-Linked Dinucleotides to Facilitate dsDNA Bending and Binding to the Homeodomain of Pax6

Sequence Requirements of the GPNG β-Turn of the Ecballium elaterium Trypsin Inhibitor II Explored by Combinatorial Library Screening

Structure of Ecballium elaterium trypsin inhibitor II (EETI-II): a rigid molecular scaffold

Structure of viscotoxin A3: disulfide location from weak SAD data

Abstract 1103: Integrin-linked Kinase and Laminin alpha 4 Mutations Cause Human Cardiomyopathy

Synthesis and Structural Characterization of Functionalized Dimeric Aluminophosphonates and a Monomeric Gallophosphonate Anion

First Structurally Characterized Organometallic Chloro Oxo−Peroxo Compounds of Molybdenum and Tungsten

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