Demyelination in hereditary sensory neuropathy type‐1C
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DOI: 10.1002/acn3.51110
Abstract: Sphingolipids are enriched in the nerves. Serine‐palmitoyltransferase (SPT) catalyzes the key step of sphingolipids biosynthesis. Mutations in SPT subunits (SPTLC) lead to the excessive production of neurotoxic deoxysphingolipids (DoxSLs) in patients with Hereditary Sensory Neuropathy… read more here.
Keywords: sensory neuropathy; pathology; hereditary sensory; demyelination hereditary ... See more keywords
First Portuguese patient presenting with hereditary sensory and autonomic neuropathy type 1E associated with a novel mutation in DNMT1 gene
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DOI: 10.1007/s10072-019-04179-6
Abstract: Dear Sirs, DNA methyltransferase 1 (DNMT1) is essential for many cellular functions including transcription regulation, cell differentiation, gene imprinting, and genome stability [1–3]. Mutations in the target sequence (TS) domain ofDNMT1 gene (chromosome 19p13.2) are… read more here.
Keywords: autonomic neuropathy; sensory autonomic; hereditary sensory; gene ... See more keywords
Structure of the human TRiC/CCT Subunit 5 associated with hereditary sensory neuropathy
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DOI: 10.1038/s41598-017-03825-3
Abstract: The human chaperonin TRiC consists of eight non-identical subunits, and its protein-folding activity is critical for cellular health. Misfolded proteins are associated with many human diseases, such as amyloid diseases, cancer, and neuropathies, making TRiC… read more here.
Keywords: cct subunit; sensory neuropathy; associated hereditary; human tric ... See more keywords
A Child Presenting with Recurrent Corneal Ulcers: Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV)
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DOI: 10.1080/01658107.2018.1506937
Abstract: ABSTRACT Hereditary Sensory and Autonomic Neuropathy IV (HSAN IV) or Congenital Insensitivity to pain and Anhidrosis is an autosomal recessive condition. It is characterized by absence of reaction to painful stimuli, anhidrosis, self-mutilating behaviour and… read more here.
Keywords: autonomic neuropathy; corneal ulcers; sensory autonomic; recurrent corneal ... See more keywords
Calcium-Mediated Calpain Activation and Microtubule Dissociation in Cell Model of Hereditary Sensory Neuropathy Type-1 Expressing V144D SPTLC1 Mutation.
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DOI: 10.1089/dna.2021.0816
Abstract: Hereditary sensory neuropathy type 1A (HSN1A) is an autosomal, dominantly inherited peripheral neuropathy caused by mutations in serine palmitoyl transferase long chain 1 (SPTLC1), involved in the de novo synthesis of sphingolipids. We have previously… read more here.
Keywords: cell; hereditary sensory; cell model; neuropathy type ... See more keywords
Hereditary sensory autonomic neuropathy type II: Report of two novel mutations in the FAM134B gene
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DOI: 10.1111/jns.12352
Abstract: Hereditary sensory autonomic neuropathy (HSAN) type II is a rare, autosomal recessive, and early onset sensory neuropathy, characterized by severe and progressive sensation impairment, leading to ulcero‐mutilating complications. FAM134B gene, also known as RETREG1 gene,… read more here.
Keywords: autonomic neuropathy; sensory autonomic; report; hereditary sensory ... See more keywords
Oral manifestations, dental management, and a rare homozygous mutation of the PRDM12 gene in a boy with hereditary sensory and autonomic neuropathy type VIII: a case report and review of the literature
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DOI: 10.1186/s13256-017-1387-z
Abstract: BackgroundHereditary sensory and autonomic neuropathy type VIII is a rare autosomal recessive inherited disorder. Chen et al. recently identified the causative gene and characterized biallelic mutations in the PR domain-containing protein 12 gene, which plays… read more here.
Keywords: autonomic neuropathy; sensory autonomic; type viii; hereditary sensory ... See more keywords
Hereditary Sensory and Autonomic Neuropathy 2B Caused by a Novel RETREG1 Mutation (c.765dupT) and Paternal Uniparental Isodisomy of Chromosome 5
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DOI: 10.3389/fgene.2019.01085
Abstract: Hereditary sensory and autonomic neuropathy (HSAN) 2B is a rare disease and has been reported mostly in offspring of consanguineous parents. Here we report the case of a patient born to non-consanguineous parents who was… read more here.
Keywords: hereditary sensory; uniparental isodisomy; mutation; isodisomy chromosome ... See more keywords
Novel Compound Heterozygous DST Variants Causing Hereditary Sensory and Autonomic Neuropathies VI in Twins of a Chinese Family
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DOI: 10.3389/fgene.2020.00492
Abstract: Background: Hereditary sensory and autonomic neuropathies (HSANs) are a rare and severe group of sensory axonal neuropathies. HSANs have been classified into eight groups based on mode of inheritance, clinical features, and the involved genes.… read more here.
Keywords: sensory autonomic; chinese family; family; autonomic neuropathies ... See more keywords
Multi-type RFC1 repeat expansions as the most common cause of hereditary sensory and autonomic neuropathy
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DOI: 10.3389/fneur.2022.986504
Abstract: Non-coding repeat expansions within RFC1 and NOTCH2NLC genes have lately been linked to multisystem neurodegenerative diseases, which also shed light on yet undiagnosed patients with inherited peripheral neuropathies. The aim of this study was to… read more here.
Keywords: hereditary sensory; sensory autonomic; repeat; rfc1 repeat ... See more keywords
The NGF R100W Mutation, Associated with Hereditary Sensory Autonomic Neuropathy Type V, Specifically Affects the Binding Energetic Landscapes of NGF and of Its Precursor proNGF and p75NTR
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DOI: 10.3390/biology12030364
Abstract: Simple Summary A point mutation in the Nerve Growth factor gene (leading to the amino acid substitution R100W), causing Hereditary Sensory and Autonomic Neuropathy type V, a condition that primarily affects the sensory nerve cells,… read more here.
Keywords: hereditary sensory; sensory autonomic; r100w mutation; mutation ... See more keywords