TY  - GEN
AU  - Sohn,Mira
AU  - Ivanova,Pavlina
AU  - Brown,H Alex
AU  - Toth,Daniel J
AU  - Varnai,Peter
AU  - Kim,Yeun Ju
AU  - Balla,Tamas
TI  - Lenz-Majewski mutations in PTDSS1 affect phosphatidylinositol 4-phosphate metabolism at ER-PM and ER-Golgi junctions
SN  - 1091-6490
PY  - 2016///0902
KW  - Abnormalities, Multiple
KW  - enzymology
KW  - Bone Diseases, Developmental
KW  - Cell Membrane
KW  - Endoplasmic Reticulum
KW  - Golgi Apparatus
KW  - HEK293 Cells
KW  - Humans
KW  - Intellectual Disability
KW  - Minor Histocompatibility Antigens
KW  - Mutation
KW  - Nitrogenous Group Transferases
KW  - genetics
KW  - Phosphatidylinositol Phosphates
KW  - Phosphotransferases (Alcohol Group Acceptor)
N1  - Publication Type: Journal Article; Research Support, Non-U.S. Gov't
UR  - https://doi.org/10.1073/pnas.1525719113
ER  -