@article {488,
	title = {Mutations in LNPK, Encoding the Endoplasmic Reticulum Junction Stabilizer Lunapark, Cause a Recessive Neurodevelopmental Syndrome.},
	journal = {Am J Hum Genet},
	volume = {103},
	year = {2018},
	month = {2018 08 02},
	pages = {296-304},
	abstract = {<p>The dynamic shape of the endoplasmic reticulum (ER) is a reflection of its wide variety of critical cell biological functions. Consequently, perturbation of ER-shaping proteins can cause a range of human phenotypes. Here, we describe three affected children (from two consanguineous families) who carry homozygous loss-of-function mutations in LNPK (previously known as KIAA1715); this gene encodes lunapark, which is proposed to serve as a curvature-stabilizing protein within tubular three-way junctions of the ER. All individuals presented with severe psychomotor delay, intellectual disability, hypotonia, epilepsy, and corpus callosum hypoplasia, and two of three showed mild cerebellar hypoplasia and atrophy. Consistent with a proposed role in neurodevelopmental disease, LNPK was expressed during brain development in humans and mice and was present in neurite-like processes in differentiating human neural progenitor cells. Affected cells showed the absence of full-length lunapark, aberrant ER structures, and increased luminal mass density. Together, our results implicate the ER junction stabilizer lunapark in establishing the corpus callosum.</p>},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2018.06.011},
	author = {Breuss, Martin W and Nguyen, An and Song, Qiong and Nguyen, Thai and Stanley, Valentina and James, Kiely N and Musaev, Damir and Chai, Guoliang and Wirth, Sara A and Anzenberg, Paula and George, Renee D and Johansen, Anide and Ali, Shaila and Zia-Ur-Rehman, Muhammad and Sultan, Tipu and Zaki, Maha S and Gleeson, Joseph G}
}
@article {23,
	title = {Mutations in MBOAT7, Encoding Lysophosphatidylinositol Acyltransferase I, Lead to Intellectual Disability Accompanied by Epilepsy and Autistic Features.},
	journal = {Am J Hum Genet},
	volume = {99},
	year = {2016},
	month = {2016 Oct 06},
	pages = {912-916},
	abstract = {<p>The risk of epilepsy among individuals with intellectual disability (ID) is approximately ten times that of the general population. From a cohort of >5,000 families affected by neurodevelopmental disorders, we identified six consanguineous families harboring homozygous inactivating variants in MBOAT7, encoding lysophosphatidylinositol acyltransferase (LPIAT1). Subjects presented with ID frequently accompanied by epilepsy and autistic features. LPIAT1 is a membrane-bound phospholipid-remodeling enzyme that transfers arachidonic acid (AA) to lysophosphatidylinositol to produce AA-containing phosphatidylinositol. This study suggests a role for AA-containing phosphatidylinositols in the development of ID accompanied by epilepsy and autistic features.</p>},
	keywords = {Acyltransferases, Arachidonic Acid, Autistic Disorder, Child, Child, Preschool, Consanguinity, Epilepsy, Female, Homozygote, Humans, Infant, Intellectual Disability, Lysophospholipids, Male, Membrane Proteins, Mutation, Pedigree, Phosphatidylinositols},
	issn = {1537-6605},
	doi = {10.1016/j.ajhg.2016.07.019},
	author = {Johansen, Anide and Rosti, Rasim O and Musaev, Damir and Sticca, Evan and Harripaul, Ricardo and Zaki, Maha and {\c C}a{\u g}layan, Ahmet Okay and Azam, Matloob and Sultan, Tipu and Froukh, Tawfiq and Reis, Andr{\'e} and Popp, Bernt and Ahmed, Iltaf and John, Peter and Ayub, Muhammad and Ben-Omran, Tawfeg and Vincent, John B and Gleeson, Joseph G and Abou Jamra, Rami}
}
