[HTML][HTML] Fabry disease pain: patient and preclinical parallels

AJ Burand Jr, CL Stucky - Pain, 2021 - journals.lww.com
Severe neuropathic pain is a hallmark of Fabry disease, a genetic disorder caused by a
deficiency in lysosomal α-galactosidase A. Pain experienced by these patients significantly …

Non-coding RNAs in neuropathic pain

T Kalpachidou, KK Kummer, M Kress - Neuronal signaling, 2020 - portlandpress.com
Neuro-immune alterations in the peripheral and central nervous system play a role in the
pathophysiology of chronic pain in general, and members of the non-coding RNA (ncRNA) …

Disruption of the microbiota-gut-brain axis is a defining characteristic of the α-Gal A (-/0) mouse model of Fabry disease

C Delprete, R Rimondini Giorgini, E Lucarini… - Gut …, 2023 - Taylor & Francis
Fabry disease (FD) is an X-linked metabolic disease caused by a deficiency in α-
galactosidase A (α-Gal A) activity. This causes accumulation of glycosphingolipids …

[HTML][HTML] Neuropathic pain in a Fabry disease rat model

JJ Miller, K Aoki, F Moehring, CA Murphy, CL O'Hara… - JCI insight, 2018 - ncbi.nlm.nih.gov
Fabry disease, the most common lysosomal storage disease, affects multiple organs and
results in a shortened life span. This disease is caused by a deficiency of the lysosomal …

Characterization of small fiber pathology in a mouse model of Fabry disease

L Hofmann, D Hose, A Grießhammer, R Blum, F Döring… - Elife, 2018 - elifesciences.org
Fabry disease (FD) is a life-threatening X-linked lysosomal storage disorder caused by α-
galactosidase A (α-GAL) deficiency. Small fiber pathology and pain are major FD symptoms …

Management of pain in Fabry disease in the UK clinical setting: consensus findings from an expert Delphi panel

KM Stepien, A Broomfield, D Cole, PB Deegan… - Orphanet Journal of …, 2023 - Springer
Background Fabry disease is a rare, X-linked inherited lysosomal storage disorder, that
manifests as a heterogeneous disease with renal, cardiac and nervous system involvement …

Dysregulation of sphingolipid metabolism in pain

J Wang, G Zheng, L Wang, L Meng, J Ren… - Frontiers in …, 2024 - frontiersin.org
Pain is a clinical condition that is currently of great concern and is often caused by tissue or
nerve damage or occurs as a concomitant symptom of a variety of diseases such as cancer …

Role of gangliosides in peripheral pain mechanisms

P Sántha, I Dobos, G Kis, G Jancsó - International Journal of Molecular …, 2020 - mdpi.com
Gangliosides are abundantly occurring sialylated glycosphingolipids serving diverse
functions in the nervous system. Membrane-localized gangliosides are important …

Review of mechanisms, pharmacological management, psychosocial implications, and holistic treatment of pain in Fabry disease

JN Rajan, K Ireland, R Johnson… - Journal of Clinical …, 2021 - mdpi.com
Fabry disease is a progressive X-linked lysosomal storage disease caused by a mutation in
the GLA gene, encoding the lysosomal hydrolase α-galactosidase A. The consequent …

Ion channels and pain in Fabry disease

C Weissmann, AA Albanese, NE Contreras… - Molecular …, 2021 - journals.sagepub.com
Fabry disease (FD) is a progressive, X-linked inherited disorder of glycosphingolipid
metabolism due to deficient or absent lysosomal α-galactosidase A (α-Gal A) activity which …