Three-dimensional microengineered models of human cardiac diseases

J Veldhuizen, RQ Migrino, M Nikkhah - Journal of biological engineering, 2019 - Springer
In vitro three-dimensional (3D) microengineered tissue models have been the recent focus
of pathophysiological studies, particularly in the field of cardiovascular research. These …

[HTML][HTML] Pompe disease gene therapy: neural manifestations require consideration of CNS directed therapy

BJ Byrne, DD Fuller, BK Smith, N Clement… - Annals of …, 2019 - ncbi.nlm.nih.gov
Pompe disease is a neuromuscular disease caused by a deficiency of the lysosomal
enzyme acid alpha-glucosidase leading to lysosomal and cytoplasmic glycogen …

Stem cells in cardiovascular medicine: historical overview and future prospects

M Samak, R Hinkel - Cells, 2019 - mdpi.com
Cardiovascular diseases remain the leading cause of death in the developed world,
accounting for more than 30% of all deaths. In a large proportion of these patients, acute …

GSKIP-Mediated anchoring increases phosphorylation of Tau by PKA but not by GSK3beta via cAMP/PKA/GSKIP/GSK3/Tau axis signaling in cerebrospinal fluid and …

HJ Ko, SJ Chiou, YH Wong, YH Wang, YL Lai… - Journal of clinical …, 2019 - mdpi.com
Based on the protein kinase A (PKA)/GSK3β interaction protein (GSKIP)/glycogen synthase
kinase 3β (GSK3β) axis, we hypothesized that these might play a role in Tau …

DeepNEU: artificially induced stem cell (aiPSC) and differentiated skeletal muscle cell (aiSkMC) simulations of infantile onset POMPE disease (IOPD) for potential …

S Esmail, WR Danter - Frontiers in cell and developmental biology, 2019 - frontiersin.org
Infantile onset Pompe disease (IOPD) is a rare and lethal genetic disorder caused by the
deletion of the acid alpha-glucosidase (GAA) gene. This gene encodes an essential …

[HTML][HTML] Assessing metabolic profiles in human myoblasts from patients with late-onset Pompe disease

P Meinke, S Limmer, S Hintze… - Annals of Translational …, 2019 - ncbi.nlm.nih.gov
Background Pompe disease is a neuromuscular disease caused by a deficiency of
lysosomal acid alpha-glucosidase (GAA) which degrades glycogen, resulting in progressive …

[HTML][HTML] Induced pluripotent stem cells for modelling energetic alterations in hypertrophic cardiomyopathy

CJA Ramachandra, KPMM Ja, YH Lin… - Conditioning …, 2019 - ncbi.nlm.nih.gov
Hypertrophic cardiomyopathy (HCM) is one of the most commonly inherited cardiac
disorders that manifests with increased ventricular wall thickening, cardiomyocyte …

Using human Pompe disease-induced pluripotent stem cell-derived neural cells to identify compounds with therapeutic potential

HP Huang, W Chiang, L Stone, CK Kang… - Human Molecular …, 2019 - academic.oup.com
Abstract Pompe disease (OMIM# 232300) is a glycogen storage disease caused by
autosomal recessive mutations of the gene encoding alpha-1, 4-glucosidase (GAA; EC 3.2 …

A Liver Model of infantile-onset Pompe disease using patient-specific induced pluripotent stem cells

T Yoshida, T Jonouchi, K Osafune, J Takita… - Frontiers in Cell and …, 2019 - frontiersin.org
Infantile-onset Pompe disease (IOPD) is a life-threatening multi-organ disease caused by an
inborn defect of lysosomal acid α-glucosidase (GAA), which can degrade glycogen into …

Modeling Cardiomyopathies with iPSCs

JS Hulot - Medical Applications of iPS Cells: Innovation in …, 2019 - Springer
Cardiomyopathies are disorders with primary defect of the cardiac muscle, typically
presenting in a familial context and associated with mutations in major determinants of the …