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Heart and Nervous System Pathology in Compound Heterozygous Friedreich Ataxia
In a small percentage of patients with Friedreich ataxia (FA), the pathogenic mutation is compound heterozygous, consisting of a guanine–adenine–adenine (GAA) trinucleotide repeat expansion in one […]
Activation of PKC Triggers Rescue of NPC1 Patient Specific iPSC Derived Glial Cells from Gliosis
Niemann-Pick disease Type C1 (NPC1) is a rare progressive neurodegenerative disorder caused by mutations in the NPC1 gene. The pathological mechanisms, underlying NPC1 are not yet completely […]
Reductions in Glucosylsphingosine
Gaucher disease (GD), an autosomal recessive lipid storage disorder, arises from mutations in the GBA1 (β-glucocerebrosidase) gene, resulting in glucosylceramide accumulation in tissue macrophages. […]
Fluorescent Probes for Selective Protein Labeling in Lysosomes: A Case of α-Galactosidase A
This study demonstrated fluorescent probes for selective protein labeling in lysosomes in a case of α-galactosidase A, contributing further to the knowledge about diagnostics and pathology of Fabry […]
C26-Ceramide as Highly Sensitive Biomarker for the Diagnosis of Farber Disease
Farber disease (FD) is a rare autosomal recessive disease caused by mutations in the acid ceramidase gene (ASAH1). Low ceramidase activity results in the accumulation of fatty substances, mainly […]
Increased Regenerative Capacity of the Olfactory Epithelium in Niemann–Pick Disease Type C1
Niemann–Pick disease type C1 (NPC1) is a fatal neurovisceral lysosomal lipid storage disorder. The mutation of the NPC1 protein affects the homeostasis and transport of cholesterol and […]
AMPA-Receptor Specific Biogenesis Complexes Control Synaptic Transmission and Intellectual Ability
AMPA-type glutamate receptors (AMPARs), key elements in excitatory neurotransmission in the brain, are macromolecular complexes whose properties and cellular functions are determined by the […]
Novel Homozygous PCK1 Mutation
Clinical and laboratory data were collected from three Finnish patients including a sibling pair and another unrelated child with unexplained childhood hypoglycemia. Transient elevation of alanine […]
Dataset in Support of the Generation of Niemann-Pick Type C1
Data presented in this article demonstrate the generation and characterization of two novel Niemann-Pick disease Type C1 (NPC1) patient-specific induced pluripotent stem cell (iPSC) lines. For […]