• Je něco špatně v tomto záznamu ?

Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome

SB. Sousa, D. Jenkins, E. Chanudet, G. Tasseva, M. Ishida, G. Anderson, J. Docker, M. Ryten, J. Sa, JM. Saraiva, A. Barnicoat, R. Scott, A. Calder, D. Wattanasirichaigoon, K. Chrzanowska, M. Simandlová, L. Van Maldergem, P. Stanier, PL. Beales,...

. 2014 ; 46 (1) : 70-6.

Jazyk angličtina Země Spojené státy americké

Typ dokumentu časopisecké články, Research Support, N.I.H., Extramural, práce podpořená grantem

Perzistentní odkaz   https://www.medvik.cz/link/bmc14050747
E-zdroje Online Plný text

NLK ProQuest Central od 2000-01-01 do Před 1 rokem
Medline Complete (EBSCOhost) od 1998-06-01 do 2015-11-30
Health & Medicine (ProQuest) od 2000-01-01 do Před 1 rokem
Public Health Database (ProQuest) od 2000-01-01 do Před 1 rokem

Odkazy

PubMed 24241535
DOI 10.1038/ng.2829
Knihovny.cz E-zdroje

Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism.

Citace poskytuje Crossref.org

000      
00000naa a2200000 a 4500
001      
bmc14050747
003      
CZ-PrNML
005      
20140411103941.0
007      
ta
008      
140401s2014 xxu f 000 0|eng||
009      
AR
024    7_
$a 10.1038/ng.2829 $2 doi
035    __
$a (PubMed)24241535
040    __
$a ABA008 $b cze $d ABA008 $e AACR2
041    0_
$a eng
044    __
$a xxu
100    1_
$a Sousa, Sérgio B
245    10
$a Gain-of-function mutations in the phosphatidylserine synthase 1 (PTDSS1) gene cause Lenz-Majewski syndrome / $c SB. Sousa, D. Jenkins, E. Chanudet, G. Tasseva, M. Ishida, G. Anderson, J. Docker, M. Ryten, J. Sa, JM. Saraiva, A. Barnicoat, R. Scott, A. Calder, D. Wattanasirichaigoon, K. Chrzanowska, M. Simandlová, L. Van Maldergem, P. Stanier, PL. Beales, JE. Vance, GE. Moore,
520    9_
$a Lenz-Majewski syndrome (LMS) is a syndrome of intellectual disability and multiple congenital anomalies that features generalized craniotubular hyperostosis. By using whole-exome sequencing and selecting variants consistent with the predicted dominant de novo etiology of LMS, we identified causative heterozygous missense mutations in PTDSS1, which encodes phosphatidylserine synthase 1 (PSS1). PSS1 is one of two enzymes involved in the production of phosphatidylserine. Phosphatidylserine synthesis was increased in intact fibroblasts from affected individuals, and end-product inhibition of PSS1 by phosphatidylserine was markedly reduced. Therefore, these mutations cause a gain-of-function effect associated with regulatory dysfunction of PSS1. We have identified LMS as the first human disease, to our knowledge, caused by disrupted phosphatidylserine metabolism. Our results point to an unexplored link between phosphatidylserine synthesis and bone metabolism.
650    _2
$a mnohočetné abnormality $x genetika $7 D000015
650    _2
$a mladiství $7 D000293
650    _2
$a zvířata $7 D000818
650    _2
$a kultivované buňky $7 D002478
650    _2
$a dítě $7 D002648
650    _2
$a nanismus $7 D004392
650    _2
$a embryo nesavčí $7 D004625
650    _2
$a ženské pohlaví $7 D005260
650    _2
$a fibroblasty $x metabolismus $7 D005347
650    _2
$a lidé $7 D006801
650    _2
$a hyperostóza $7 D015576
650    _2
$a mužské pohlaví $7 D008297
650    _2
$a molekulární sekvence - údaje $7 D008969
650    12
$a mutace $7 D009154
650    _2
$a transferasy dusíkatých skupin $x genetika $x metabolismus $7 D019884
650    _2
$a fosfatidylseriny $x biosyntéza $x genetika $7 D010718
650    _2
$a syndrom $7 D013577
650    _2
$a dánio pruhované $x embryologie $x genetika $7 D015027
655    _2
$a časopisecké články $7 D016428
655    _2
$a Research Support, N.I.H., Extramural $7 D052061
655    _2
$a práce podpořená grantem $7 D013485
700    1_
$a Jenkins, Dagan $u -
700    1_
$a Chanudet, Estelle $u -
700    1_
$a Tasseva, Guergana $u -
700    1_
$a Ishida, Miho $u -
700    1_
$a Anderson, Glenn $u - $7 gn_A_00006129
700    1_
$a Docker, James $u -
700    1_
$a Ryten, Mina $u -
700    1_
$a Sa, Joaquim $u -
700    1_
$a Saraiva, Jorge M $u -
700    1_
$a Barnicoat, Angela $u -
700    1_
$a Scott, Richard $u -
700    1_
$a Calder, Alistair $u -
700    1_
$a Wattanasirichaigoon, Duangrurdee $u -
700    1_
$a Chrzanowska, Krystyna $u -
700    1_
$a Simandlová, Martina $u -
700    1_
$a Van Maldergem, Lionel $u -
700    1_
$a Stanier, Philip $u -
700    1_
$a Beales, Philip L $u -
700    1_
$a Vance, Jean E $u -
700    1_
$a Moore, Gudrun E $u -
773    0_
$w MED00003458 $t Nature genetics $x 1546-1718 $g Roč. 46, č. 1 (2014), s. 70-6
856    41
$u https://pubmed.ncbi.nlm.nih.gov/24241535 $y Pubmed
910    __
$a ABA008 $b sig $c sign $y a $z 0
990    __
$a 20140401 $b ABA008
991    __
$a 20140411104031 $b ABA008
999    __
$a ok $b bmc $g 1017883 $s 849327
BAS    __
$a 3
BAS    __
$a PreBMC
BMC    __
$a 2014 $b 46 $c 1 $d 70-6 $i 1546-1718 $m Nature genetics $n Nat Genet $x MED00003458
LZP    __
$a Pubmed-20140401

Najít záznam

Citační ukazatele

Možnosti archivace