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

NeuroMolecular Medicine

Volumn 17, Issue 1, 2015, Pages 47-57

  Ernst, Daniela ^a,b   Murphy, Sinéad M ^c,d,f   Sathiyanadan, Karthik ⁱ   Wei, Yu ^a   Othman, Alaa ^a,k   Laurá, Matilde ^f   Liu, Yo Tsen ^l,m   Penno, Anke ^j   Blake, Julian ^e,f,g   Donaghy, Michael ^h   Houlden, Henry ^f   Reilly, Mary M ^f   Hornemann, Thorsten ^a,b,j  

^a UNIVERSITY HOSPITAL ZURICH   (Switzerland)

^b UNIVERSITY OF ZURICH   (Switzerland)

^c Department of Paediatric Surgery   (Ireland)

^d TRINITY COLLEGE DUBLIN   (Ireland)

^e NATIONAL HOSPITAL FOR NEUROLOGY AND NEUROSURGERY   (United Kingdom)

^f UNIVERSITY COLLEGE LONDON   (United Kingdom)

^g NORFOLK AND NORWICH UNIVERSITY HOSPITAL   (United Kingdom)

^h UNIVERSITY OF OXFORD   (United Kingdom)

ⁱ UNIVERSITY OF BERN   (Switzerland)

^j UNIVERSITY OF BONN   (Germany)

^k Competence Center for Systems Physiology and Metabolic Diseases ^*  (Switzerland)

^l TAIPEI VETERANS GENERAL HOSPITAL   (Taiwan)

^m NATIONAL YANG MING UNIVERSITY   (Taiwan)

more..

Author keywords

1 Deoxysphingolipids; HSAN1; Sensory neuropathy; Serine palmitoyltransferase; Sphingolipids

Indexed keywords

1 DEOXYSPHINGOLIPID; ALANINE; SERINE PALMITOYLTRANSFERASE; SPHINGOLIPID; UNCLASSIFIED DRUG; HYBRID PROTEIN; PHOSPHOSERINE; SPTLC1 PROTEIN, HUMAN;

ADULT; AGED; ARTICLE; AUTONOMIC NEUROPATHY; BINDING AFFINITY; CONTROLLED STUDY; CORRELATIONAL STUDY; ENZYME ACTIVITY; ENZYME PHOSPHORYLATION; ENZYME SPECIFICITY; ENZYME SUBSTRATE COMPLEX; FEMALE; GENE EXPRESSION; GENE SEQUENCE; GENETIC DISORDER; GENETIC VARIABILITY; HEK293 CELL LINE; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHY TYPE 1; HUMAN; ISOELECTRIC FOCUSING; LIPOGENESIS; MAJOR CLINICAL STUDY; MALE; MIDDLE AGED; PEDIGREE ANALYSIS; PRIORITY JOURNAL; REGULATORY MECHANISM; SENSORY NEUROPATHY; SIGNAL TRANSDUCTION; WILD TYPE; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CHEMICAL STRUCTURE; CHEMISTRY; COMPARATIVE STUDY; GENETICS; HETEROZYGOTE; HOMOZYGOTE; METABOLISM; MOLECULAR GENETICS; NERVE CONDUCTION; NEUROPATHY; NUCLEOTIDE SEQUENCE; PEDIGREE; PHOSPHORYLATION; PHYSIOLOGY; PROTEIN PROCESSING; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY; SPECIES DIFFERENCE; TWO DIMENSIONAL GEL ELECTROPHORESIS;

AGED; AMINO ACID SEQUENCE; AMINO ACID SUBSTITUTION; CONSERVED SEQUENCE; ELECTROPHORESIS, GEL, TWO-DIMENSIONAL; FEMALE; HEK293 CELLS; HEREDITARY SENSORY AND AUTONOMIC NEUROPATHIES; HETEROZYGOTE; HOMOZYGOTE; HUMANS; ISOELECTRIC FOCUSING; MALE; MIDDLE AGED; MODELS, MOLECULAR; MOLECULAR SEQUENCE DATA; NEURAL CONDUCTION; PEDIGREE; PHOSPHORYLATION; PHOSPHOSERINE; PROTEIN PROCESSING, POST-TRANSLATIONAL; RECOMBINANT FUSION PROTEINS; SEQUENCE ALIGNMENT; SEQUENCE HOMOLOGY, AMINO ACID; SERINE C-PALMITOYLTRANSFERASE; SPECIES SPECIFICITY; SPHINGOLIPIDS; SUBSTRATE SPECIFICITY;

EID: 84925490117     PISSN: 15351084     EISSN: 15591174     Source Type: Journal    
DOI: 10.1007/s12017-014-8339-1     Document Type: Article

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