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33 Einträge gefunden

CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Non-functional ubiquitin C-terminal hydrolase L1 drives podocyte injury through impairing proteasomes in autoimmune glomerulonephritis
2023 - Forschungsinformationssystem des UKE - frei zugänglich
Site-1 and site-2 proteases: A team of two in regulated proteolysis
2022 - Forschungsinformationssystem des UKE - frei zugänglich
A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia
2022 - Forschungsinformationssystem des UKE - frei zugänglich
Mucolipidosis type II and type III: a systematic review of 843 published cases
2021 - Forschungsinformationssystem des UKE
Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?
2021 - Forschungsinformationssystem des UKE - frei zugänglich
Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta
2020 - Forschungsinformationssystem des UKE - frei zugänglich
Hip Morphology in Mucolipidosis Type II
2020 - Forschungsinformationssystem des UKE - frei zugänglich
Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders
2019 - Forschungsinformationssystem des UKE - frei zugänglich
The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover
2018 - Forschungsinformationssystem des UKE
Site-1 protease and lysosomal homeostasis
2017 - Forschungsinformationssystem des UKE
GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms
2017 - Forschungsinformationssystem des UKE
Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex
2015 - Forschungsinformationssystem des UKE
Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site
2015 - Forschungsinformationssystem des UKE
Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control
2015 - Forschungsinformationssystem des UKE
Biosynthesis, targeting, and processing of lysosomal Proteins: pulse-chase labeling and immune precipitation
1. Pohl, Sandra
2. Hasilik, Andrej
2015 - Forschungsinformationssystem des UKE
Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)
2014 - Forschungsinformationssystem des UKE
Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.
2012 - Forschungsinformationssystem des UKE
Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma
2012 - Forschungsinformationssystem des UKE
Defects in Transport: Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta and mucolipidosis III gamma
2012 - Forschungsinformationssystem des UKE

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CNS Manifestations in Mucolipidosis Type II-A Retrospective Analysis of Longitudinal Data on Neurocognitive Development and Neuroimaging in Eleven Patients

Non-functional ubiquitin C-terminal hydrolase L1 drives podocyte injury through impairing proteasomes in autoimmune glomerulonephritis

Site-1 and site-2 proteases: A team of two in regulated proteolysis

A homozygous hypomorphic BNIP1 variant causes an increase in autophagosomes and reduced autophagic flux and results in a spondylo-epiphyseal dysplasia

Mucolipidosis type II and type III: a systematic review of 843 published cases

Is hematopoietic stem cell transplantation a therapeutic option for mucolipidosis type II?

Combined in-vitro and in-silico analyses of missense mutations in GNPTAB provide new insights into the molecular bases of mucolipidosis II and III alpha/beta

Hip Morphology in Mucolipidosis Type II

Toward Engineering the Mannose 6-Phosphate Elaboration Pathway in Plants for Enzyme Replacement Therapy of Lysosomal Storage Disorders

The Lysosomal Protein Arylsulfatase B Is a Key Enzyme Involved in Skeletal Turnover

Site-1 protease and lysosomal homeostasis

GNPTAB missense mutations cause loss of GlcNAc-1-phosphotransferase activity in mucolipidosis type II through distinct mechanisms

Subunit interactions of the disease-related hexameric GlcNAc-1-phosphotransferase complex

Analyses of disease-related GNPTAB mutations define a novel GlcNAc-1-phosphotransferase interaction domain and an alternative site-1 protease cleavage site

Site-1 protease-activated formation of lysosomal targeting motifs is independent of the lipogenic transcription control

Biosynthesis, targeting, and processing of lysosomal Proteins: pulse-chase labeling and immune precipitation

Mucolipidosis II-related mutations inhibit the exit from the endoplasmic reticulum and proteolytic cleavage of GlcNAc-1-phosphotransferase precursor protein (GNPTAB)

Lysosomal dysfunction causes neurodegeneration in mucolipidosis II 'knock-in' mice.

Multiple Enzyme Deficiencies: Defects in transport: Mucolipidosis II alpha/beta; mucolipidosis III alpha/beta and mucolipidosis III gamma

Defects in Transport: Mucolipidosis II alpha/beta, mucolipidosis III alpha/beta and mucolipidosis III gamma