Related Articles

• Gantner et al. (2019) “Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy” The New England Journal of Medicine.
  • Supplemental Index
• Tyynismaa (2019) “A Metabolic Vulnerability of Vision” The New England Journal of Medicine
• Fridman, Vera et al. (2019) “Randomized trial of l-serine in patients with hereditary sensory and autonomic neuropathy type 1.” Neurology 92.4 (2019): e359-e370. Web. 21 Jan. 2019.
• Harrison, Dunn & Campopiano (2018) – Sphingolipid biosynthesis in man and microbes
• Ernst et al. (2015) – Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That is Involved in Regulating Substrate Specificity
• Othman et al. (2015) – Lowering Plasma 1-Deoxysphingolipids Improves Neuropathy in Diabetic Rats
• Fridman et al. (2015) – Natural History and Biomarkers in Hereditary Sensory Neuropathy Type 1
• Myers et al. (2014) – Mutations in the SPTLC1 Protein Cause Mitochondrial Structural Abnormalities and Endoplasmic Reticulum Stress in Lymphoblasts
• Suh et al. (2014) – Early-Onset Severe Hereditary Sensory and Autonomic Neuropathy Type 1 with S331F SPTLC1 Mutation
• Murphy et al. (2013) – HSAN1 Caused by a Novel Mutation in SPTLC2
• Auer-Grumbach et al. (2013) – Mutations at Ser331 in the HSN Type I Gene SPTLC1 are Associated with a Distinct Syndromic Phenotype
• Garofolo et al. (2011) – Oral L-serine supplementation reduces production of neurotoxic dSLs in mice and humans with HSAN1
• Scherer et al. (2011) – The Debut of a Rational Treatment for an Inherited Neuropathy?
• Rotthier et al. (2011) – Characterization of Two Mutations in SPTLC1 Subunit of SPT Associated with HSAN1
• Rotthier et al. (2010) – Mutations in the SPTLC2 Subunit of SPT Cause HSAN1
• Bertea et al. (2010) – DSBs as Plasma Markers in Diabetes Mellitus
• Penno et al. (2010) – HSAN1 is Caused by the Accumulation of Two Neurotoxic Sphingolipids
• Eichler et al. (2009) – Overexpression of WT SPT1 Lowers DSB Levels and Rescues Phenotype of HSAN1
• McCampbell et al. (2005) – HSAN1 Mouse Model
• Bejaoui et al. (2001) – SPTLC1 is Mutated in HSAN1
• Bejaoui et al. (1999) – Genetic Linkage of HSAN1
• Tocantins & Reimann (1939) – Perforating Ulcer