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Pregnancy in hereditary sensory and autonomic neuropathy type V: A case report and literature review.
Higeta D, Morita A, Uehara R, Inoue M, Kameda T, Iwase A. Higeta D, et al. Taiwan J Obstet Gynecol. 2022 Jan;61(1):115-117. doi: 10.1016/j.tjog.2021.11.019. Taiwan J Obstet Gynecol. 2022. PMID: 35181018 Free article. Review.
We report on the management of pregnancy and delivery in a woman with HSAN type V (HSAN-V) that is a rare inherited disease characterized by pain insensitivity, and partial anhidrosis. CASE REPORT: A 25-year-old woman with HSAN-V a …
We report on the management of pregnancy and delivery in a woman with HSAN type V (HSAN-V) that is a rare …
Understanding pain perception through genetic painlessness diseases: The role of NGF and proNGF.
Testa G, Cattaneo A, Capsoni S. Testa G, et al. Pharmacol Res. 2021 Jul;169:105662. doi: 10.1016/j.phrs.2021.105662. Epub 2021 May 15. Pharmacol Res. 2021. PMID: 34000361 Free article. Review.
Key to understanding the role of NGF as a pain mediator is the finding that mutations (namely, R121W, V232fs and R221W) in the NGF gene cause painlessness disease Hereditary Sensory and Autonomic Neuropathy type V (HSAN V …
Key to understanding the role of NGF as a pain mediator is the finding that mutations (namely, R121W, V232fs and R221W) in the NGF gene caus …
Generation of the human induced pluripotent stem cell line UKWNLi002-A from dermal fibroblasts of a woman with a heterozygous c.608 C>T (p.Thr203Met) mutation in exon 3 of the nerve growth factor gene potentially associated with hereditary sensory and autonomic neuropathy type 5.
Klein T, Henkel L, Klug K, Kwok CK, Klopocki E, Üçeyler N. Klein T, et al. Stem Cell Res. 2018 Dec;33:171-174. doi: 10.1016/j.scr.2018.10.017. Epub 2018 Oct 12. Stem Cell Res. 2018. PMID: 30384131 Free article.
In this study, we report the human induced pluripotent stem cell line (iPSC) HSAN5-T203 M-iPSC, generated from human dermal fibroblasts (HDF) of a woman carrying a heterozygous c.608C > T mutation in the nerve growth factor gene potentially associated with hereditary se …
In this study, we report the human induced pluripotent stem cell line (iPSC) HSAN5-T203 M-iPSC, generated from human dermal fibroblas …
The NGF(R100W) Mutation Specifically Impairs Nociception without Affecting Cognitive Performance in a Mouse Model of Hereditary Sensory and Autonomic Neuropathy Type V.
Testa G, Mainardi M, Morelli C, Olimpico F, Pancrazi L, Petrella C, Severini C, Florio R, Malerba F, Stefanov A, Strettoi E, Brandi R, Arisi I, Heppenstall P, Costa M, Capsoni S, Cattaneo A. Testa G, et al. J Neurosci. 2019 Dec 4;39(49):9702-9715. doi: 10.1523/JNEUROSCI.0688-19.2019. Epub 2019 Nov 4. J Neurosci. 2019. PMID: 31685654 Free PMC article.
The physiological function of NGF as a pain mediator is altered in patients with Hereditary Sensory and Autonomic Neuropathy type V (HSAN V), caused by the 661C>T transition in the Ngf gene, resulting in the R100W …
The physiological function of NGF as a pain mediator is altered in patients with Hereditary Sensory and Autonomic …
Painless Nerve Growth Factor: A TrkA biased agonist mediating a broad neuroprotection via its actions on microglia cells.
Cattaneo A, Capsoni S. Cattaneo A, et al. Pharmacol Res. 2019 Jan;139:17-25. doi: 10.1016/j.phrs.2018.10.028. Epub 2018 Nov 1. Pharmacol Res. 2019. PMID: 30391352 Free article. Review.
To prevent the NGF pain-inducing collateral effects, thus avoiding the necessity for local brain injection, we developed painless NGF (hNGFp), based on the human genetic disease Hereditary Sensory and Autonomic Neuropathy type V ( …
To prevent the NGF pain-inducing collateral effects, thus avoiding the necessity for local brain injection, we developed painless NGF (hNGFp …
Swedish Nerve Growth Factor Mutation (NGFR100W) Defines a Role for TrkA and p75NTR in Nociception.
Sung K, Ferrari LF, Yang W, Chung C, Zhao X, Gu Y, Lin S, Zhang K, Cui B, Pearn ML, Maloney MT, Mobley WC, Levine JD, Wu C. Sung K, et al. J Neurosci. 2018 Apr 4;38(14):3394-3413. doi: 10.1523/JNEUROSCI.1686-17.2018. Epub 2018 Feb 26. J Neurosci. 2018. PMID: 29483280 Free PMC article.
The recent discovery of a point mutation leading to a change from arginine to tryptophan at residue 100 in the mature NGFbeta sequence (NGF(R100W)) in patients with hereditary sensory and autonomic neuropathy type V (HSAN …
The recent discovery of a point mutation leading to a change from arginine to tryptophan at residue 100 in the mature NGFbeta sequence (NGF( …
The chemokine CXCL12 mediates the anti-amyloidogenic action of painless human nerve growth factor.
Capsoni S, Malerba F, Carucci NM, Rizzi C, Criscuolo C, Origlia N, Calvello M, Viegi A, Meli G, Cattaneo A. Capsoni S, et al. Brain. 2017 Jan;140(1):201-217. doi: 10.1093/brain/aww271. Brain. 2017. PMID: 28031222 Free PMC article.
To reduce the nerve growth factor pain-inducing side effects, thus avoiding the need for local brain injection, we developed human painless nerve growth factor (hNGFp), inspired by the human genetic disease hereditary sensory and autonomic neuropath …
To reduce the nerve growth factor pain-inducing side effects, thus avoiding the need for local brain injection, we developed human painless …
Cholinergic striatal neurons are increased in HSAN V homozygous mice despite reduced NGF bioavailability.
Testa G, Calvello M, Cattaneo A, Capsoni S. Testa G, et al. Biochem Biophys Res Commun. 2019 Feb 12;509(3):763-766. doi: 10.1016/j.bbrc.2018.12.178. Epub 2019 Jan 3. Biochem Biophys Res Commun. 2019. PMID: 30612733
A point mutation (R100W) in the NGFB gene was found in patients with Hereditary Sensory and Autonomic Neuropathy type V (HSAN V), which leads to pain insensitivity. ...Due to the known action of the striatal cholinerg …
A point mutation (R100W) in the NGFB gene was found in patients with Hereditary Sensory and Autonomic Neuropa …