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Mutations in the SPTLC1 gene are a cause of juvenile amyotrophic lateral sclerosis that may be amenable to serine supplementation

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1002/ana.10312openalex-snapshot

Evidence that accumulation of ceramides and cholesterol esters mediates oxidative stress–induced death of motor neurons in amyotrophic lateral sclerosis

inferredcites →https://doi.org/10.1002/ana.10369openalex-snapshot

“True” sporadic ALS associated with a novel SOD‐1 mutation

inferredcites →https://doi.org/10.1002/ana.410170413openalex-snapshot

Motor neuron disease and adult hexosaminidase a deficiency in two families: Evidence for multisystem degeneration

inferredcites →https://doi.org/10.1002/humu.20976openalex-snapshot

Genotype-phenotype analysis in 2,405 patients with a dystrophinopathy using the UMD-DMD database: a model of nationwide knowledgebase

inferredcites →https://doi.org/10.1002/humu.22844openalex-snapshot

GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene

inferredcites →https://doi.org/10.1007/s00401-013-1078-9openalex-snapshot

Frontotemporal dementia–amyotrophic lateral sclerosis syndrome locus on chromosome 16p12.1–q12.2: genetic, clinical and neuropathological analysis

inferredcites →https://doi.org/10.1007/s12192-011-0306-2openalex-snapshot

A quantitative method for detection of spliced X-box binding protein-1 (XBP1) mRNA as a measure of endoplasmic reticulum (ER) stress

inferredcites →https://doi.org/10.1016/j.ajhg.2018.08.016openalex-snapshot

Burden Testing of Rare Variants Identified through Exome Sequencing via Publicly Available Control Data

inferredcites →https://doi.org/10.1016/j.bbalip.2010.05.003openalex-snapshot

Roles for dysfunctional sphingolipid metabolism in Alzheimer's disease neuropathogenesis

inferredcites →https://doi.org/10.1016/j.bbalip.2015.01.010openalex-snapshot

Monogenic neurological disorders of sphingolipid metabolism

inferredcites →https://doi.org/10.1016/j.ejmg.2013.02.002openalex-snapshot

Mutations at Ser331 in the HSN type I gene SPTLC1 are associated with a distinct syndromic phenotype

inferredcites →https://doi.org/10.1016/j.jneumeth.2009.05.020openalex-snapshot

Rapid, reproducible transduction of select forebrain regions by targeted recombinant virus injection into the neonatal mouse brain

inferredcites →https://doi.org/10.1016/j.nbd.2018.05.008openalex-snapshot

Hereditary sensory neuropathy type 1-associated deoxysphingolipids cause neurotoxicity, acute calcium handling abnormalities and mitochondrial dysfunction in vitro

inferredcites →https://doi.org/10.1016/j.neulet.2017.08.040openalex-snapshot

The GBA variant E326K is associated with Parkinson's disease and explains a genome-wide association signal

inferredcites →https://doi.org/10.1016/j.neurobiolaging.2010.05.016openalex-snapshot

A de novo missense mutation of the FUS gene in a “true” sporadic ALS case

inferredcites →https://doi.org/10.1016/j.ymeth.2005.01.009openalex-snapshot

Sphingolipidomics: High-throughput, structure-specific, and quantitative analysis of sphingolipids by liquid chromatography tandem mass spectrometry

inferredcites →https://doi.org/10.1016/s0072-9752(07)80018-2openalex-snapshot

Chapter 15 Juvenile amyotrophic lateral sclerosis

inferredcites →https://doi.org/10.1016/s1388-1981(03)00059-3openalex-snapshot

Serine palmitoyltransferase, a key enzyme of sphingolipid metabolism

inferredcites →https://doi.org/10.1016/s1474-4422(17)30401-5openalex-snapshot

Novel genes associated with amyotrophic lateral sclerosis: diagnostic and clinical implications

inferredcites →https://doi.org/10.1017/s0317167100021053openalex-snapshot

Frontal Behavioral Inventory: Diagnostic Criteria for Frontal Lobe Dementi

inferredcites →https://doi.org/10.1021/ci300579ropenalex-snapshot

Mapping Monomeric Threading to Protein–Protein Structure Prediction

inferredcites →https://doi.org/10.1038/85817openalex-snapshot

SPTLC1 is mutated in hereditary sensory neuropathy, type 1

inferredcites →https://doi.org/10.1038/85879openalex-snapshot

Mutations in SPTLC1, encoding serine palmitoyltransferase, long chain base subunit-1, cause hereditary sensory neuropathy type I

inferredcites →https://doi.org/10.1038/gim.2015.148openalex-snapshot

Clinical application of whole-exome sequencing across clinical indications

inferredcites →https://doi.org/10.1038/ncomms12408openalex-snapshot

Projected increase in amyotrophic lateral sclerosis from 2015 to 2040

inferredcites →https://doi.org/10.1038/ncomms6827openalex-snapshot

Phosphorylation of LRRK2 by casein kinase 1α regulates trans-Golgi clustering via differential interaction with ARHGEF7

inferredcites →https://doi.org/10.1038/nmeth.3213openalex-snapshot

The I-TASSER Suite: protein structure and function prediction

inferredcites →https://doi.org/10.1038/nn.3584openalex-snapshot

State of play in amyotrophic lateral sclerosis genetics

inferredcites →https://doi.org/10.1038/s41431-018-0177-4openalex-snapshot

Project MinE: study design and pilot analyses of a large-scale whole-genome sequencing study in amyotrophic lateral sclerosis

inferredcites →https://doi.org/10.1038/s41525-018-0044-9openalex-snapshot

A phenotype centric benchmark of variant prioritisation tools

inferredcites →https://doi.org/10.1056/nejmoa1815111openalex-snapshot

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

inferredcites →https://doi.org/10.1074/jbc.m109.092973openalex-snapshot

Hereditary Sensory Neuropathy Type 1 Is Caused by the Accumulation of Two Neurotoxic Sphingolipids

inferredcites →https://doi.org/10.1080/146608200300079536openalex-snapshot

El Escorial revisited: Revised criteria for the diagnosis of amyotrophic lateral sclerosis

inferredcites →https://doi.org/10.1080/21678421.2016.1221971openalex-snapshot

Phase I clinical trial of safety of L-serine for ALS patients

inferredcites →https://doi.org/10.1093/bioinformatics/btt314openalex-snapshot

Isaac: ultra-fast whole-genome secondary analysis on Illumina sequencing platforms

inferredcites →https://doi.org/10.1093/brain/awaa039openalex-snapshot

CYLD is a causative gene for frontotemporal dementia – amyotrophic lateral sclerosis

inferredcites →https://doi.org/10.1093/brain/aws161openalex-snapshot

Exome sequencing reveals riboflavin transporter mutations as a cause of motor neuron disease

inferredcites →https://doi.org/10.1093/brain/awt315openalex-snapshot

Treatable childhood neuronopathy caused by mutations in riboflavin transporter RFVT2

inferredcites →https://doi.org/10.1093/hmg/5.12.2023openalex-snapshot

De novo mutation of GDNF, ligand for the RET/GDNFR-alpha receptor complex, in Hirschsprung disease

inferredcites →https://doi.org/10.1093/hmg/ddv439openalex-snapshot

Amyotrophic lateral sclerosis and denervation alter sphingolipids and up-regulate glucosylceramide synthase

inferredcites →https://doi.org/10.1111/j.1532-5415.2005.53221.xopenalex-snapshot

The Montreal Cognitive Assessment, MoCA: A Brief Screening Tool For Mild Cognitive Impairment

inferredcites →https://doi.org/10.1136/jmg.27.5.307openalex-snapshot

Segregation analysis of peripheral neurofibromatosis (NF1).

inferredcites →https://doi.org/10.1159/000351153openalex-snapshot

Global Epidemiology of Amyotrophic Lateral Sclerosis: A Systematic Review of the Published Literature

inferredcites →https://doi.org/10.1172/jci57549openalex-snapshot

Oral l-serine supplementation reduces production of neurotoxic deoxysphingolipids in mice and humans with hereditary sensory autonomic neuropathy type 1

inferredcites →https://doi.org/10.1186/s13059-016-1110-1openalex-snapshot

New insights into the generation and role of de novo mutations in health and disease

inferredcites →https://doi.org/10.1186/s40478-014-0172-0openalex-snapshot

Immunoreactivity of valosin-containing protein in sporadic amyotrophic lateral sclerosis and in a case of its novel mutant

inferredcites →https://doi.org/10.1194/jlr.d900001-jlr200openalex-snapshot

An improved method to determine serine palmitoyltransferase activity

inferredcites →https://doi.org/10.1194/jlr.r800073-jlr200openalex-snapshot

Sphingolipidomics: a valuable tool for understanding the roles of sphingolipids in biology and disease

inferredcites →https://doi.org/10.1212/nxg.0000000000000365openalex-snapshot

Deoxysphingolipids as candidate biomarkers for a novel SPTLC1 mutation associated with HSAN-I

inferredcites →https://doi.org/10.1212/wnl.0000000000006811openalex-snapshot

Randomized trial of l -serine in patients with hereditary sensory and autonomic neuropathy type 1

inferredcites →https://doi.org/10.3109/21678421.2013.822516openalex-snapshot

The Department of Veterans Affairs Biorepository Brain Bank: A national resource for amyotrophic lateral sclerosis research

inferredcites →https://doi.org/10.3389/fncel.2014.00025openalex-snapshot

A plural role for lipids in motor neuron diseases: energy, signaling and structure

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1038/s41594-020-00551-9openalex-snapshot

Structural insights into the regulation of human serine palmitoyltransferase complexes

inferred← citeshttps://doi.org/10.1136/jnnp-2020-325437openalex-snapshot

Improving the efficacy of exome sequencing at a quaternary care referral centre: novel mutations, clinical presentations and diagnostic challenges in rare neurogenetic diseases

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