Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis

Structural insights into the assembly and substrate selectivity of human SPT–ORMDL3 complex

(2021) Sisi Li et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

Structural insights into the regulation of human serine palmitoyltransferase complexes

(2021) Yingdi Wang et al.   NATURE STRUCTURAL & MOLECULAR BIOLOGY

The mutational constraint spectrum quantified from variation in 141,456 humans

(2020) Konrad J. Karczewski et al.   NATURE

Subunit composition of the mammalian serine-palmitoyltransferase defines the spectrum of straight and methyl-branched long-chain bases

(2020) Museer A. Lone et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A Systematic Review of Genotype–Phenotype Correlation across Cohorts Having Causal Mutations of Different Genes in ALS

(2020) Owen Connolly et al.   Journal of Personalized Medicine

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

(2019) Vera Fridman et al.   NEUROLOGY

The ORMDL/Orm–serine palmitoyltransferase (SPT) complex is directly regulated by ceramide: Reconstitution of SPT regulation in isolated membranes

(2019) Deanna L. Davis et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

A Novel Variant (Asn177Asp) in SPTLC2 Causing Hereditary Sensory Autonomic Neuropathy Type 1C

(2019) Saranya Suriyanarayanan et al.   NEUROMOLECULAR MEDICINE

A divalent siRNA chemical scaffold for potent and sustained modulation of gene expression throughout the central nervous system

(2019) Julia F. Alterman et al.   NATURE BIOTECHNOLOGY

Dominant collagen XII mutations cause a distal myopathy

(2019) Payam Mohassel et al.   Annals of Clinical and Translational Neurology

Serine and Lipid Metabolism in Macular Disease and Peripheral Neuropathy

(2019) Marin L. Gantner et al.   NEW ENGLAND JOURNAL OF MEDICINE

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

The Ormdl genes regulate the sphingolipid synthesis pathway to ensure proper myelination and neurologic function in mice

(2019) Benjamin A Clarke et al.   eLife

Sphingolipid biosynthesis in man and microbes

(2018) Peter J. Harrison et al.   NATURAL PRODUCT REPORTS

Sphingolipid Metabolism Is Dysregulated at Transcriptomic and Metabolic Levels in the Spinal Cord of an Animal Model of Amyotrophic Lateral Sclerosis

(2018) Alexandre Henriques et al.   Frontiers in Molecular Neuroscience

The role of de novo mutations in adult-onset neurodegenerative disorders

(2018) Gaël Nicolas et al.   ACTA NEUROPATHOLOGICA

The ORMs interact with transmembrane domain 1 of Lcb1 and regulate serine palmitoyltransferase oligomerization, activity and localization

(2018) Gongshe Han et al.   BIOCHIMICA ET BIOPHYSICA ACTA-MOLECULAR AND CELL BIOLOGY OF LIPIDS

Amyotrophic Lateral Sclerosis

(2017) Robert H. Brown et al.   NEW ENGLAND JOURNAL OF MEDICINE

Lipidomics Reveals Cerebrospinal-Fluid Signatures of ALS

(2017) H. Blasco et al.   Scientific Reports

Erratum: Corrigendum: A PHGDH inhibitor reveals coordination of serine synthesis and one-carbon unit fate

(2016) Michael E Pacold et al.   Nature Chemical Biology

HSAN1 mutations in serine palmitoyltransferase reveal a close structure–function–phenotype relationship

(2015) Heiko Bode et al.   HUMAN MOLECULAR GENETICS

Elevation of 20-carbon long chain bases due to a mutation in serine palmitoyltransferase small subunit b results in neurodegeneration

(2015) Lihong Zhao et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Glycosphingolipids are modulators of disease pathogenesis in amyotrophic lateral sclerosis

(2015) James C. Dodge et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

A mitochondrial origin for frontotemporal dementia and amyotrophic lateral sclerosis through CHCHD10 involvement

(2014) Sylvie Bannwarth et al.   BRAIN

Expression of the ORMDLS, Modulators of Serine Palmitoyltransferase, Is Regulated by Sphingolipids in Mammalian Cells

(2014) Sita D. Gupta et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Isolation of single-base genome-edited human iPS cells without antibiotic selection

(2014) Yuichiro Miyaoka et al.   NATURE METHODS

The phenotypic variability of amyotrophic lateral sclerosis

(2014) Bart Swinnen et al.   Nature Reviews Neurology

The human splicing code reveals new insights into the genetic determinants of disease

(2014) H. Y. Xiong et al.   SCIENCE

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

(2013) Michaela Auer-Grumbach et al.   European Journal of Medical Genetics

Topological and Functional Characterization of the ssSPTs, Small Activating Subunits of Serine Palmitoyltransferase

(2013) Jeffrey M. Harmon et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Early-onset severe hereditary sensory and autonomic neuropathy type 1 with S331F SPTLC1 mutation

(2013) BUM CHUN SUH et al.   Molecular Medicine Reports

The epidemiology of ALS: a conspiracy of genes, environment and time

(2013) Ammar Al-Chalabi et al.   Nature Reviews Neurology

Sphingolipid Homeostasis in the Endoplasmic Reticulum and Beyond

(2013) D. K. Breslow   Cold Spring Harbor Perspectives in Biology

Mammalian ORMDL Proteins Mediate the Feedback Response in Ceramide Biosynthesis

(2012) Deanna L. Siow et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Oligodendroglia metabolically support axons and contribute to neurodegeneration

(2012) Youngjin Lee et al.   NATURE

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

(2011) Kevin Garofalo et al.   JOURNAL OF CLINICAL INVESTIGATION

A Disease-causing Mutation in the Active Site of Serine Palmitoyltransferase Causes Catalytic Promiscuity

(2010) Kenneth Gable et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

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

(2010) Anke Penno et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Inhibition of the PLP-dependent enzyme serine palmitoyltransferase by cycloserine: evidence for a novel decarboxylative mechanism of inactivation

(2010) Jonathan Lowther et al.   Molecular BioSystems

Genes for hereditary sensory and autonomic neuropathies: a genotype-phenotype correlation

(2009) A. Rotthier et al.   BRAIN

Identification of small subunits of mammalian serine palmitoyltransferase that confer distinct acyl-CoA substrate specificities

(2009) G. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Awaji diagnostic algorithm increases sensitivity of El Escorial criteria for ALS diagnosis

(2008) Mamede De Carvalho et al.   Amyotrophic Lateral Sclerosis