Research ExplorerScientific StaffSandra Pohl

Prof. Dr. (PhD) ID: 57286

Sandra Pohl

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Affiliations

Publications

Mice heterozygous for an osteogenesis imperfecta-linked MBTPS2 variant display a compromised subchondral osteocyte lacunocanalicular network associated with abnormal articular cartilage

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

Pathogenic variants in GNPTAB and GNPTG encoding distinct subunits of GlcNAc-1-phosphotransferase differentially impact bone resorption in patients with mucolipidosis type II and III

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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

Research output: SCORING: Contribution to journal › SCORING: Review article › Research

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

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Transgenic inhibition of interleukin-6 trans-signaling does not prevent skeletal pathologies in mucolipidosis type II mice

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

Imbalanced cellular metabolism compromises cartilage homeostasis and joint function in a mouse model of mucolipidosis type III gamma

Research output: SCORING: Contribution to journal › SCORING: Journal article › Research › peer-review

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projects

SFB 877, Teilprojekt B03: Proteolyse-ver

Project: Research

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