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

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

(2014) Uwe Kornak et al.   BRAIN

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

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

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

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

Mammalian ORMDL Proteins Mediate the Feedback Response in Ceramide Biosynthesis

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

Plasma deoxysphingolipids: a novel class of biomarkers for the metabolic syndrome?

(2011) A. Othman et al.   DIABETOLOGIA

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

Reliability of the CMT neuropathy score (second version) in Charcot-Marie-Tooth disease

(2011) Sinéad M. Murphy et al.   JOURNAL OF THE PERIPHERAL NERVOUS SYSTEM

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

(2011) Christopher J Klein et al.   NATURE GENETICS

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

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

Deoxysphingoid bases as plasma markers in Diabetes mellitus

(2010) Mariana Bertea et al.   Lipids in Health and Disease

Membranes in Balance: Mechanisms of Sphingolipid Homeostasis

(2010) David K. Breslow et al.   MOLECULAR CELL

Orm family proteins mediate sphingolipid homeostasis

(2010) David K. Breslow et al.   NATURE

Orm1 and Orm2 are conserved endoplasmic reticulum membrane proteins regulating lipid homeostasis and protein quality control

(2010) S. Han et al.   PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA

Structural Insights into the Enzymatic Mechanism of Serine Palmitoyltransferase from Sphingobacterium multivorum

(2009) H. Ikushiro et al.   JOURNAL OF BIOCHEMISTRY

Ceramide Synthase Inhibition by Fumonisin B1Causes Accumulation of 1-Deoxysphinganine

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