ArticleThe Journal of clinical investigation2011
The debut of a rational treatment for an inherited neuropathy?
Article in The Journal of clinical investigation, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 8 papers.
What it found
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The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
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Who cites it
8 citing papers in PubMed, 14 citations in OpenAlex.
- Genetic pain loss disorders.Nature reviews. Disease primers · 2022Review
- Informing Pharmacokinetic Models With Physiological Data: Oral Population Modeling of L-Serine in Humans.Frontiers in pharmacology · 2021Article
- Druggable Sphingolipid Pathways: Experimental Models and Clinical Opportunities.Advances in experimental medicine and biology · 2020Review
- De novo PMP2 mutations in families with type 1 Charcot-Marie-Tooth disease.Brain : a journal of neurology · 2016Article
- [Sensory and autonomic neuropathies and pain-related channelopathies].Schmerz (Berlin, Germany) · 2015Review
- Solving the riddle of the sphinx may provide new insights into diabetes and polyneuropathy.Diabetes · 2015Article
- Inherited neuropathies: clinical overview and update.Muscle & nerve · 2013Review
- Sphingolipid signaling in metabolic disorders.Cell metabolism · 2012Review
Corrections and comments
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Authors and funding
1 author at 1 institution in 1 country.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Hereditary neuropathies are common neurological conditions characterized by progressive loss of motor and/or sensory function. There are no effective treatments. Among the many causes of hereditary neuropathies are dominant mutations in serine palmitoyltransferase, long chain base subunit 1 (SPTLC1), which cause hereditary sensory and autonomic neuropathy type 1 (HSAN1). By incorporating L-alanine in place of L-serine, the mutant HSAN1–associated serine palmitoyltransferase generates deoxysphingolipids, which are thought to be neurotoxic. In this issue of the JCI, Garofalo and colleagues report that oral L-serine reverses the accumulation of deoxysphingolipids in humans with HSAN1 and in a transgenic mouse model. As oral L-serine reduces the severity of neuropathy in the mouse model of HSAN1, these data suggest a rational candidate therapy for this devastating condition.
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Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.