Human in vitro models for Fabry disease: new paths for unravelling disease mechanisms and therapies

C Borisch, T Thum, C Bär, J Hoepfner - Journal of Translational Medicine, 2024 - Springer
Fabry disease is a multi-organ disease, caused by mutations in the GLA gene and leading to
a progressive accumulation of glycosphingolipids due to enzymatic absence or malfunction …

Expanding the Neurological Phenotype of Anderson–Fabry Disease: Proof of Concept for an Extrapyramidal Neurodegenerative Pattern and Comparison with …

M Zedde, I Romani, A Scaravilli, S Cocozza, L Trojano… - Cells, 2024 - mdpi.com
Anderson–Fabry disease (AFD) is a genetic sphingolipidosis involving virtually the entire
body. Among its manifestation, the involvement of the central and peripheral nervous system …

Endothelial Cell Dysfunction and Hypoxia as Potential Mediators of Pain in Fabry Disease: A Human-Murine Translational Approach

K Klug, M Spitzel, C Hans, A Klein… - International Journal of …, 2023 - mdpi.com
Fabry disease (FD) is caused by α-galactosidase A (AGAL) enzyme deficiency, leading to
globotriaosylceramide accumulation (Gb3) in several cell types. Pain is one of the …

[HTML][HTML] Fabry disease Schwann cells release p11 to induce sensory neuron hyperactivity

TB Waltz, D Chao, EK Prodoehl, JD Enders, VL Ehlers… - JCI insight, 2024 - ncbi.nlm.nih.gov
Patients with Fabry disease suffer from chronic debilitating pain and peripheral sensory
neuropathy with minimal treatment options, but the cellular drivers of this pain are unknown …

[HTML][HTML] In vitro characterization of cells derived from a patient with the GLA variant c. 376A> G (p. S126G) highlights a non-pathogenic role in Fabry disease

M Breyer, J Grüner, A Klein, L Finke, K Klug… - Molecular Genetics and …, 2024 - Elsevier
Fabry disease (FD) is a life-limiting disorder characterized by intracellular
globotriaosylceramide (Gb3) accumulations. The underlying α-galactosidase A (α-GAL A) …

Interaction of human keratinocytes and nerve fiber terminals at the neuro-cutaneous unit

E Christoph, S Britz, D Philine, T Klein, M Sauer… - eLife, 2024 - search.proquest.com
Traditionally, peripheral sensory neurons are assumed as the exclusive transducers of
external stimuli. Current research moves epidermal keratinocytes into focus as sensors and …

Elevated interleukin-8 expression by skin fibroblasts as a potential contributor to pain in women with Fabry disease

L Hofmann, J Grüner, K Klug, M Breyer, T Klein… - Plos one, 2024 - journals.plos.org
Fabry disease (FD) is a lysosomal storage disorder of X-linked inheritance. Mutations in the
α-galactosidase A gene lead to cellular globotriaosylceramide (Gb3) depositions and …

Genetic variants of unknown significance in alpha‐galactosidase A: Cellular delineation from Fabry disease

A Klein, K Klug, M Breyer, J Grüner… - Journal of Inherited …, 2024 - Wiley Online Library
Fabry disease (FD) is an X‐linked multiorgan disorder caused by variants in the alpha‐
galactosidase A gene (GLA). Depending on the variant, disease phenotypes range from …

Human sensory-like neuron cultivation—An optimized protocol

NM Schottmann, J Grüner, F Bär… - Frontiers in …, 2024 - frontiersin.org
Introduction Reprogramming of human-induced pluripotent stem cells (iPSCs) and their
differentiation into specific cell types, such as induced sensory-like neurons (iSNs), are …

Interaction of human keratinocytes and nerve fiber terminals at the neuro-cutaneous unit

C Erbacher, S Britz, P Dinkel, T Klein, M Sauer… - Elife, 2024 - elifesciences.org
Traditionally, peripheral sensory neurons are assumed as the exclusive transducers of
external stimuli. Current research moves epidermal keratinocytes into focus as sensors and …