
@article {43847,
	title = {Does retinoic acid reverse cell cycle dysregulation in Alzheimer{\textquoteright}s disease lymphocytes?},
	journal = {Asian J Psychiatr},
	volume = {39},
	year = {2019},
	month = {2018 Aug 16},
	pages = {174-177},
	abstract = {<p>Aberrant re-entry of neurons into cell cycle appears to be an early event in Alzheimer{\textquoteright}s disease (AD) and targeting this dysregulation may have therapeutic potential. We have examined whether cell cycle dysregulation in AD can be detected using patient and control derived B-lymphocytes. Cell cycle analysis using flow cytometry demonstrated that cell cycle dysregulation occurs in AD lymphocytes, with a significant difference in the distribution of cells in G0/G1, S and G2/M phases of cell cycle as compared to control lymphocytes. Using global gene expression analysis by RNA sequencing and cell cycle analysis, we examined the role of Retinoic Acid (RA), a candidate molecule predicted to be of therapeutic potential in cell cycle dysregulation associated with AD. CCND1, CCNE2, E2F transcription factors which are known to be dysregulated in AD were among the 32 genes that showed differential expression in response to RA treatment thus suggesting a protective role of RA. However, the cell cycle analysis demonstrated that RA did not reverse the cellular phenotype in AD lymphocytes. This suggests that though RA might have a protective role by influencing the expression of cell cycle genes, it might not be able to arrest abnormal re-entry into cell cycle.</p>
},
	issn = {1876-2026},
	doi = {10.1016/j.ajp.2018.08.010},
	author = {Ashok, Aparna and Naaz, Safoora and Kota, Lakshmi Narayanan and Sen, Somdatta and Purushottam, Meera and Faruq, Mohammed and Kumari, Renu and Yadav, Vinod and Kannan, Ramakrishnan and Jain, Sanjeev and Panicker, Mitradas M and Viswanath, Biju}
}
@article {30436,
	title = {Mutation burden profile in familial Alzheimer{\textquoteright}s disease cases from India.},
	journal = {Neurobiol Aging},
	volume = {64},
	year = {2018},
	month = {2018 Apr},
	pages = {158.e7-158.e13},
	abstract = {<p>This study attempts to identify coding risk variants in genes previously implicated in Alzheimer{\textquoteright}s disease (AD) pathways, through whole-exome sequencing of subjects (N\&nbsp;= 17) with AD, with a positive family history of dementia (familial AD). We attempted to evaluate the mutation burden in genes encoding amyloid precursor protein metabolism and previously linked to risk of dementias. Novel variants were identified in genes involved in amyloid precursor protein metabolism such as PSEN1 (chr 14:73653575, W161C, tgg \&gt; tgT), PLAT (chr 8:42039530,G272R), and SORL1 (chr11:121414373,G601D). The mutation burden assessment of dementia-related genes for all 17 cases revealed 45 variants, which were either shared across subjects, or were present in just the 1 patient. The study shows that the clinical characteristics, and genetic correlates, obtained in this sample are broadly comparable to the other studies that have investigated familial forms of AD. Our study identifies rare deleterious genetic variations, in the coding region of genes involved in amyloid signaling, and other dementia-associated pathways.</p>
},
	issn = {1558-1497},
	doi = {10.1016/j.neurobiolaging.2017.12.002},
	author = {Syama, Adhikarla and Sen, Somdatta and Kota, Lakshmi Narayanan and Viswanath, Biju and Purushottam, Meera and Varghese, Mathew and Jain, Sanjeev and Panicker, Mitradas M and Mukherjee, Odity}
}
