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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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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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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

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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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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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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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Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

Human molecular genetics, 2002-04, Vol.11 (8), p.885-891

2002

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Enzyme therapy for lysosomal acid lipase deficiency in the mouse

Human molecular genetics, 2001-08, Vol.10 (16), p.1639-1648

2001

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Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations

Human molecular genetics, 2008-07, Vol.17 (13), p.1877-1889

2008

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Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product

Human molecular genetics, 2003-08, Vol.12 (16), p.2003-2012

2003

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A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

Human molecular genetics, 2002-03, Vol.11 (5), p.599-604

2002

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Zeitschrift / SerieProceedings Of The National Academy Of Sciences - Pnas

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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

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

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

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

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

Lysosomal localization of the neuronal ceroid lipofuscinosis CLN5 protein

Enzyme therapy for lysosomal acid lipase deficiency in the mouse

Different cellular and molecular mechanisms for early and late-onset myelin protein zero mutations

Wolfram syndrome: structural and functional analyses of mutant and wild-type wolframin, the WFS1 gene product

A frequent mild mutation in ALG6 may exacerbate the clinical severity of patients with congenital disorder of glycosylation Ia (CDG-Ia) caused by phosphomannomutase deficiency

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