Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity
about
1-Deoxysphingolipids Encountered Exogenously and Made de Novo: Dangerous Mysteries inside an EnigmaHSAN1 mutations in serine palmitoyltransferase reveal a close structure-function-phenotype relationship.Identification of Genetic Causes of Inherited Peripheral Neuropathies by Targeted Gene Panel SequencingThe Variant p.(Arg183Trp) in SPTLC2 Causes Late-Onset Hereditary Sensory Neuropathy.Localization of 1-deoxysphingolipids to mitochondria induces mitochondrial dysfunction.Clinical and metabolic consequences of L-serine supplementation in hereditary sensory and autonomic neuropathy type 1C.Phosphorylation of pyridoxal 5'-phosphate enzymes: an intriguing and neglected topic.
P2860
Q26830485-B992FA35-D5F4-48D2-A333-491FD0666538Q30382642-5E99ACEF-7FE7-4727-BC4D-56B1B8F7A9B9Q36909537-CAB14C83-62D6-45CC-BB42-FC8BA44D2670Q40316082-3A7F18A8-2703-45A5-AC54-EFF0CCD094C1Q46455308-151F31D3-E1FF-4FB9-933E-12E08BEDCA27Q47096212-5BEA54C0-530B-4DA5-9D93-CBB7212EB704Q47331017-B3E511FF-2155-43A2-93E8-8BFC8995884E
P2860
Novel HSAN1 mutation in serine palmitoyltransferase resides at a putative phosphorylation site that is involved in regulating substrate specificity
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2015 nî lūn-bûn
@nan
2015 թուականի Յունուարին հրատարակուած գիտական յօդուած
@hyw
2015 թվականի հունվարին հրատարակված գիտական հոդված
@hy
2015年の論文
@ja
2015年論文
@yue
2015年論文
@zh-hant
2015年論文
@zh-hk
2015年論文
@zh-mo
2015年論文
@zh-tw
2015年论文
@wuu
name
Novel HSAN1 mutation in serine ...... gulating substrate specificity
@ast
Novel HSAN1 mutation in serine ...... gulating substrate specificity
@en
type
label
Novel HSAN1 mutation in serine ...... gulating substrate specificity
@ast
Novel HSAN1 mutation in serine ...... gulating substrate specificity
@en
prefLabel
Novel HSAN1 mutation in serine ...... gulating substrate specificity
@ast
Novel HSAN1 mutation in serine ...... gulating substrate specificity
@en
P2093
P2860
P1476
Novel HSAN1 mutation in serine ...... gulating substrate specificity
@en
P2093
Anke Penno
Daniela Ernst
Henry Houlden
Julian Blake
Karthik Sathiyanadan
Mary M Reilly
Matilde Laurá
Michael Donaghy
Thorsten Hornemann
Yo-Tsen Liu
P2860
P2888
P356
10.1007/S12017-014-8339-1
P577
2015-01-08T00:00:00Z