Understanding and treating niemann–pick type c disease: Models matter
V Pallottini, FW Pfrieger - International Journal of Molecular Sciences, 2020 - mdpi.com
Biomedical research aims to understand the molecular mechanisms causing human
diseases and to develop curative therapies. So far, these goals have been achieved for a …
diseases and to develop curative therapies. So far, these goals have been achieved for a …
Pluripotent stem cells for disease modeling and drug discovery in Niemann-Pick type C1
C Völkner, M Liedtke, A Hermann, MJ Frech - International journal of …, 2021 - mdpi.com
The lysosomal storage disorders Niemann-Pick disease Type C1 (NPC1) and Type C2
(NPC2) are rare diseases caused by mutations in the NPC1 or NPC2 gene. Both NPC1 and …
(NPC2) are rare diseases caused by mutations in the NPC1 or NPC2 gene. Both NPC1 and …
Pathophysiological In Vitro Profile of Neuronal Differentiated Cells Derived from Niemann-Pick Disease Type C2 Patient-Specific iPSCs Carrying the NPC2 Mutations …
M Liedtke, C Völkner, AV Jürs, F Peter… - International Journal of …, 2021 - mdpi.com
Niemann-Pick type C2 (NP-C2) disease is a rare hereditary disease caused by mutations in
the NPC2 gene. NPC2 is a small, soluble protein consisting of 151 amino acids, primarily …
the NPC2 gene. NPC2 is a small, soluble protein consisting of 151 amino acids, primarily …
Primär genetische Dyslipoproteinämien und Atheroskleroserisiko
KO Schwab, J Doerfer - Pädiatrische Fettstoffwechselstörungen und …, 2022 - Springer
In diesem Kapitel werden alle wichtigen angeborenen Dyslipoproteinämien bei Kindern und
Jugendlichen behandelt und klinisch relevante Informationen über Hypercholesterinämien …
Jugendlichen behandelt und klinisch relevante Informationen über Hypercholesterinämien …
iPSCs for modeling lysosomal storage diseases
DS Chulpanova, AA Shaimardanova… - Recent Advances in …, 2020 - Elsevier
Lysosomal storage diseases (LSDs) represent a heterogeneous group of inherited diseases
caused by mutations in the genes coding for proteins involved in the degradation and …
caused by mutations in the genes coding for proteins involved in the degradation and …
[引用][C] Analysen über oxidativen Stress in neural differenzierten Morbus Niemann Pick Typ C Patienten-spezifischen induzierten pluripotenten Stammzellen
AV Jürs - Dissertation, Rostock, Universität …