000 01687 a2200421 4500
005 20250517090546.0
264 0 _c20160902
008 201609s 0 0 eng d
022 _a1091-6490
024 7 _a10.1073/pnas.1525719113
_2doi
040 _aNLM
_beng
_cNLM
100 1 _aSohn, Mira
245 0 0 _aLenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions.
_h[electronic resource]
260 _bProceedings of the National Academy of Sciences of the United States of America
_cApr 2016
300 _a4314-9 p.
_bdigital
500 _aPublication Type: Journal Article; Research Support, Non-U.S. Gov't
650 0 4 _aAbnormalities, Multiple
_xenzymology
650 0 4 _aBone Diseases, Developmental
_xenzymology
650 0 4 _aCell Membrane
_xenzymology
650 0 4 _aEndoplasmic Reticulum
_xenzymology
650 0 4 _aGolgi Apparatus
_xenzymology
650 0 4 _aHEK293 Cells
650 0 4 _aHumans
650 0 4 _aIntellectual Disability
_xenzymology
650 0 4 _aMinor Histocompatibility Antigens
650 0 4 _aMutation
650 0 4 _aNitrogenous Group Transferases
_xgenetics
650 0 4 _aPhosphatidylinositol Phosphates
_xgenetics
650 0 4 _aPhosphotransferases (Alcohol Group Acceptor)
_xgenetics
700 1 _aIvanova, Pavlina
700 1 _aBrown, H Alex
700 1 _aToth, Daniel J
700 1 _aVarnai, Peter
700 1 _aKim, Yeun Ju
700 1 _aBalla, Tamas
773 0 _tProceedings of the National Academy of Sciences of the United States of America
_gvol. 113
_gno. 16
_gp. 4314-9
856 4 0 _uhttps://doi.org/10.1073/pnas.1525719113
_zAvailable from publisher's website
999 _c25892336
_d25892336