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Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik

Human molecular genetics, 2004-03, Vol.13 (5), p.535-542

2004

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Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study

Human molecular genetics, 2004-09, Vol.13 (18), p.1979-1988

2004

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β-Mannosidosis mice: a model for the human lysosomal storage disease

Human molecular genetics, 2006-02, Vol.15 (3), p.493-500

2006

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Targeted Disruption of the Lysosomal α-Mannosidase Gene Results in Mice Resembling a Mild form of Human α-Mannosidosis

Human molecular genetics, 1999-08, Vol.8 (8), p.1365-1372

1999

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A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

Human molecular genetics, 2010-04, Vol.19 (8), p.1413-1424

2010

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A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

Human molecular genetics, 2019-02, Vol.28 (4), p.598-614

2019

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A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2

Human molecular genetics, 2016-06, Vol.25 (11), p.2182-2193

2016

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Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults

Human molecular genetics, 2011-12, Vol.20 (24), p.5000-5011

2011

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The role of N-acetylglucosaminyltransferase III and V in the post-transcriptional modifications of E-cadherin

Human molecular genetics, 2009-07, Vol.18 (14), p.2599-2608

2009

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ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig

Human molecular genetics, 2002-09, Vol.11 (19), p.2331-2339

2002

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Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP

Human molecular genetics, 2008-10, Vol.17 (20), p.3236-3246

2008

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Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome

Human molecular genetics, 2015-07, Vol.24 (13), p.3679-3688

2015

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Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

Human molecular genetics, 2010-09, Vol.19 (18), p.3623-3633

2010

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Sequential cleavage of the proteins encoded by HNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, results in products acting in distinct cellular compartments

Human molecular genetics, 2018-12, Vol.27 (24), p.4231-4248

2018

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ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

Human molecular genetics, 2002-09, Vol.11 (19), p.2331-2339

2002

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α-Mannosidosis:Functional Cloning of the Lysosomal α-Mannosidase cDNA and Identification of a Mutation in Two Affected Siblings

Human molecular genetics, 1997-05, Vol.6 (5), p.717-726

1997

Volltextzugriff (PDF)

A murine model of Denys–Drash syndrome reveals novel transcriptional targets of WT1 in podocytes

Human molecular genetics, 2010-01, Vol.19 (1), p.1-15

2010

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[beta]-Mannosidosis mice: a model for the human lysosomal storage disease

Human molecular genetics, 2006-02, Vol.15 (3), p.493

2006

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Efficacy of enzyme replacement therapy in -mannosidosis mice: a preclinical animal study

Human molecular genetics, 2004-07, Vol.13 (18), p.1979-1988

Roces, D. P.

2004

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Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice

Human molecular genetics, 2002-06, Vol.11 (12), p.1455-1464

2002

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Synthesis, purification and structural and functional characterization of recombinant form of a common genetic variant of human luteinizing hormone

Human molecular genetics, 2002-02, Vol.11 (3), p.301-315

2002

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Targeted Disruption of the Lysosomal -Mannosidase Gene Results in Mice Resembling a Mild form of Human -Mannosidosis

Human molecular genetics, 1999-08, Vol.8 (8), p.1365-1372

1999

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COG8 deficiency causes new congenital disorder of glycosylation type IIh

Human molecular genetics, 2007-04, Vol.16 (7), p.731-741

2007

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Golgi function and dysfunction in the first COG4-deficient CDG type II patient

Human molecular genetics, 2009-09, Vol.18 (17), p.3244-3256

2009

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Disease-associated mutations affect GPR56 protein trafficking and cell surface expression

Human molecular genetics, 2007-08, Vol.16 (16), p.1972-1985

2007

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Zeitschrift / SerieHuman Molecular Genetics

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Deficiency of the first mannosylation step in the N-glycosylation pathway causes congenital disorder of glycosylation type Ik

Efficacy of enzyme replacement therapy in α-mannosidosis mice: a preclinical animal study

β-Mannosidosis mice: a model for the human lysosomal storage disease

Targeted Disruption of the Lysosomal α-Mannosidase Gene Results in Mice Resembling a Mild form of Human α-Mannosidosis

A severe human metabolic disease caused by deficiency of the endoplasmatic mannosyltransferase hALG11 leads to congenital disorder of glycosylation-Ip

A recurrent missense variant in SLC9A7 causes nonsyndromic X-linked intellectual disability with alteration of Golgi acidification and aberrant glycosylation

A mouse model of a human congenital disorder of glycosylation caused by loss of PMM2

Polymorphisms in B3GAT1, SLC9A9 and MGAT5 are associated with variation within the human plasma N-glycome of 3533 European adults

The role of N-acetylglucosaminyltransferase III and V in the post-transcriptional modifications of E-cadherin

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type Ig

Tdrd3 is a novel stress granule-associated protein interacting with the Fragile-X syndrome protein FMRP

Crucial role of posttranslational modifications of integrin α3 in interstitial lung disease and nephrotic syndrome

Fatal outcome due to deficiency of subunit 6 of the conserved oligomeric Golgi complex leading to a new type of congenital disorders of glycosylation

Sequential cleavage of the proteins encoded by HNOT/ALG3, the human counterpart of the Drosophila NOT and yeast ALG3 gene, results in products acting in distinct cellular compartments

ALG12 mannosyltransferase defect in congenital disorder of glycosylation type lg

α-Mannosidosis:Functional Cloning of the Lysosomal α-Mannosidase cDNA and Identification of a Mutation in Two Affected Siblings

A murine model of Denys–Drash syndrome reveals novel transcriptional targets of WT1 in podocytes

[beta]-Mannosidosis mice: a model for the human lysosomal storage disease

Efficacy of enzyme replacement therapy in -mannosidosis mice: a preclinical animal study

Systemic and neurologic abnormalities distinguish the lysosomal disorders sialidosis and galactosialidosis in mice

Synthesis, purification and structural and functional characterization of recombinant form of a common genetic variant of human luteinizing hormone

Targeted Disruption of the Lysosomal -Mannosidase Gene Results in Mice Resembling a Mild form of Human -Mannosidosis

COG8 deficiency causes new congenital disorder of glycosylation type IIh

Golgi function and dysfunction in the first COG4-deficient CDG type II patient

Disease-associated mutations affect GPR56 protein trafficking and cell surface expression

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