@article {436,
	title = {Dysfunctional mitochondrial fission impairs cell reprogramming.},
	journal = {Cell Cycle},
	volume = {15},
	year = {2016},
	month = {2016 Dec},
	pages = {3240-3250},
	abstract = {<p>We have recently shown that mitochondrial fission is induced early in reprogramming in a Drp1-dependent manner; however, the identity of the factors controlling Drp1 recruitment to mitochondria was unexplored. To investigate this, we used a panel of RNAi targeting factors involved in the regulation of mitochondrial dynamics and we observed that MiD51, Gdap1 and, to a lesser extent, Mff were found to play key roles in this process. Cells derived from Gdap1-null mice were used to further explore the role of this factor in cell reprogramming. Microarray data revealed a prominent down-regulation of cell cycle pathways in Gdap1-null cells early in reprogramming and cell cycle profiling uncovered a G2/M growth arrest in Gdap1-null cells undergoing reprogramming. High-Content analysis showed that this growth arrest was DNA damage-independent. We propose that lack of efficient mitochondrial fission impairs cell reprogramming by interfering with cell cycle progression in a DNA damage-independent manner.</p>},
	keywords = {Animals, Cell Cycle Checkpoints, Cellular Reprogramming, DNA Damage, G2 Phase, Gene Knockdown Techniques, Mice, Mitochondrial Dynamics, Mitosis, Nerve Tissue Proteins, Pluripotent Stem Cells, Transcription Factors},
	issn = {1551-4005},
	doi = {10.1080/15384101.2016.1241930},
	author = {Prieto, Javier and Le{\'o}n, Marian and Ponsoda, Xavier and Garcia-Garcia, Francisco and Bort, Roque and Serna, Eva and Barneo-Mu{\~n}oz, Manuela and Palau, Francesc and Dopazo, Joaquin and L{\'o}pez-Garc{\'\i}a, Carlos and Torres, Josema}
}
@article {558,
	title = {Whole exome sequencing of Rett syndrome-like patients reveals the mutational diversity of the clinical phenotype.},
	journal = {Hum Genet},
	volume = {135},
	year = {2016},
	month = {2016 12},
	pages = {1343-1354},
	abstract = {<p>Classical Rett syndrome (RTT) is a neurodevelopmental disorder where most of cases carry MECP2 mutations. Atypical RTT variants involve mutations in CDKL5 and FOXG1. However, a subset of RTT patients remains that do not carry any mutation in the described genes. Whole exome sequencing was carried out in a cohort of 21 female probands with clinical features overlapping with those of RTT, but without mutations in the customarily studied genes. Candidates were functionally validated by assessing the appearance of a neurological phenotype in Caenorhabditis elegans upon disruption of the corresponding ortholog gene. We detected pathogenic variants that accounted for the RTT-like phenotype in 14 (66.6~\%) patients. Five patients were carriers of mutations in genes already known to be associated with other syndromic neurodevelopmental disorders. We determined that the other patients harbored mutations in genes that have not previously been linked to RTT or other neurodevelopmental syndromes, such as the ankyrin repeat containing protein ANKRD31 or the neuronal acetylcholine receptor subunit alpha-5 (CHRNA5). Furthermore, worm assays demonstrated that mutations in the studied candidate genes caused locomotion defects. Our findings indicate that mutations in a variety of genes contribute to the development of RTT-like phenotypes.</p>},
	keywords = {Adolescent, Adult, Animals, Caenorhabditis elegans, Carrier Proteins, Cell Cycle Proteins, Child, Child, Preschool, DNA Mutational Analysis, Exome, Female, Forkhead Transcription Factors, Genetic Variation, High-Throughput Nucleotide Sequencing, Humans, Methyl-CpG-Binding Protein 2, mutation, Nerve Tissue Proteins, Protein Serine-Threonine Kinases, Receptors, Nicotinic, Rett Syndrome},
	issn = {1432-1203},
	doi = {10.1007/s00439-016-1721-3},
	author = {Lucariello, Mario and Vidal, Enrique and Vidal, Silvia and Saez, Mauricio and Roa, Laura and Huertas, Dori and Pineda, Merc{\`e} and Dalf{\'o}, Esther and Dopazo, Joaquin and Jurado, Paola and Armstrong, Judith and Esteller, Manel}
}
