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

Novel HSAN1 Mutation in Serine Palmitoyltransferase Resides at a Putative Phosphorylation Site That Is Involved in Regulating Substrate Specificity

(2015) Daniela Ernst et al.   NEUROMOLECULAR MEDICINE

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

Sensory neuropathy with bone destruction due to a mutation in the membrane-shaping atlastin GTPase 3

(2014) Uwe Kornak 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

SWISS-MODEL: modelling protein tertiary and quaternary structure using evolutionary information

(2014) Marco Biasini et al.   NUCLEIC ACIDS RESEARCH

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

A de novo gain-of-function mutation in SCN11A causes loss of pain perception

(2013) Enrico Leipold et al.   NATURE GENETICS

Hereditary sensory and autonomic neuropathy type 1 (HSANI) caused by a novel mutation in SPTLC2

(2013) S. M. Murphy et al.   NEUROLOGY

Hereditary sensory autonomic neuropathy caused by a mutation in dystonin

(2012) Simon Edvardson et al.   ANNALS OF NEUROLOGY

Mammalian ORMDL Proteins Mediate the Feedback Response in Ceramide Biosynthesis

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

P42 Hereditary sensory neuropathy type 1: correlation of severity and plasma atypical deoxy-sphyngoid bases

(2012) M. Lauraá et al.   NEUROMUSCULAR DISORDERS

Spisulosine (ES-285) given as a weekly three-hour intravenous infusion: results of a phase I dose-escalating study in patients with advanced solid malignancies

(2011) P. Schöffski et al.   CANCER CHEMOTHERAPY AND PHARMACOLOGY

Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I

(2011) Annelies Rotthier et al.   HUMAN MUTATION

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

Mutations in DNMT1 cause hereditary sensory neuropathy with dementia and hearing loss

(2011) Christopher J Klein et al.   NATURE GENETICS

Protein kinase Ypk1 phosphorylates regulatory proteins Orm1 and Orm2 to control sphingolipid homeostasis in Saccharomyces cerevisiae

(2011) F. M. Roelants et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Mutations in the SPTLC2 Subunit of Serine Palmitoyltransferase Cause Hereditary Sensory and Autonomic Neuropathy Type I

(2010) Annelies Rotthier et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Targeted High-Throughput Sequencing Identifies Mutations in atlastin-1 as a Cause of Hereditary Sensory Neuropathy Type I

(2010) Christian Guelly et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Automated comparative protein structure modeling with SWISS-MODEL and Swiss-PdbViewer: A historical perspective

(2010) Nicolas Guex et al.   ELECTROPHORESIS

A phase I dose-escalating study of ES-285, a marine sphingolipid-derived compound, with repeat dose administration in patients with advanced solid tumors

(2010) Eduardo Vilar et al.   INVESTIGATIONAL NEW DRUGS

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

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

Orm family proteins mediate sphingolipid homeostasis

(2010) David K. Breslow et al.   NATURE

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

(2009) A. Rotthier et al.   BRAIN

Overexpression of the Wild-Type SPT1 Subunit Lowers Desoxysphingolipid Levels and Rescues the Phenotype of HSAN1

(2009) F. S. Eichler et al.   JOURNAL OF NEUROSCIENCE

Characterization of Mutant Serine Palmitoyltransferase 1 in LY-B Cells

(2009) Amin A. Momin et al.   LIPIDS

Phase I safety, pharmacokinetic, and pharmacogenomic trial of ES-285, a novel marine cytotoxic agent, administered to adult patients with advanced solid tumors

(2009) R. D. Baird et al.   MOLECULAR CANCER THERAPEUTICS

A systematic comparison of all mutations in hereditary sensory neuropathy type I (HSAN I) reveals that the G387A mutation is not disease associated

(2009) Thorsten Hornemann et al.   NEUROGENETICS

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

Spisulosine (ES-285) induces prostate tumor PC-3 and LNCaP cell death by de novo synthesis of ceramide and PKCζ activation

(2008) Ana M. Sánchez et al.   EUROPEAN JOURNAL OF PHARMACOLOGY

Ceramide Synthase Inhibition by Fumonisin B1Causes Accumulation of 1-Deoxysphinganine

(2008) Nicholas C. Zitomer et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Novel missense, insertion and deletion mutations in the neurotrophic tyrosine kinase receptor type 1 gene (NTRK1) associated with congenital insensitivity to pain with anhidrosis

(2008) Kathrin Huehne et al.   NEUROMUSCULAR DISORDERS

The SWISS-MODEL Repository and associated resources

(2008) F. Kiefer et al.   NUCLEIC ACIDS RESEARCH

Hereditary sensory neuropathy type I

(2008) Michaela Auer-Grumbach   Orphanet Journal of Rare Diseases