MECP2 disorders: from the clinic to mice and back

LM Lombardi, SA Baker… - The Journal of clinical …, 2015 - Am Soc Clin Investig
Two severe, progressive neurological disorders characterized by intellectual disability,
autism, and developmental regression, Rett syndrome and MECP2 duplication syndrome …

[HTML][HTML] Pontine mechanisms of respiratory control

M Dutschmann, TE Dick - Comprehensive Physiology, 2012 - ncbi.nlm.nih.gov
Pontine respiratory nuclei provide synaptic input to medullary rhythmogenic circuits to shape
and adapt the breathing pattern. An understanding of this statement depends on …

Preclinical research in Rett syndrome: setting the foundation for translational success

DM Katz, JE Berger-Sweeney… - Disease models & …, 2012 - journals.biologists.com
In September of 2011, the National Institute of Neurological Disorders and Stroke (NINDS),
the Eunice Kennedy Shriver National Institute of Child Health and Human Development …

Female Mecp2+/− mice display robust behavioral deficits on two different genetic backgrounds providing a framework for pre-clinical studies

RC Samaco, CM McGraw, CS Ward… - Human molecular …, 2013 - academic.oup.com
Rett syndrome (RTT) is an X-linked neurological disorder caused by mutations in the gene
encoding the transcriptional modulator methyl-CpG-binding protein 2 (MeCP2). Typical RTT …

Exogenous brain-derived neurotrophic factor rescues synaptic dysfunction in Mecp2-null mice

DD Kline, M Ogier, DL Kunze… - Journal of Neuroscience, 2010 - Soc Neuroscience
Postnatal deficits in brain-derived neurotrophic factor (BDNF) are thought to contribute to
pathogenesis of Rett syndrome (RTT), a progressive neurodevelopmental disorder caused …

Brain activity mapping in Mecp2 mutant mice reveals functional deficits in forebrain circuits, including key nodes in the default mode network, that are reversed with …

M Kron, CJ Howell, IT Adams… - Journal of …, 2012 - Soc Neuroscience
Excitatory-inhibitory imbalance has been identified within specific brain microcircuits in
models of Rett syndrome (RTT) and other autism spectrum disorders (ASDs). However …

Breathing challenges in Rett syndrome: lessons learned from humans and animal models

JM Ramirez, CS Ward, JL Neul - Respiratory physiology & neurobiology, 2013 - Elsevier
Breathing disturbances are a major challenge in Rett Syndrome (RTT). These disturbances
are more pronounced during wakefulness; but irregular breathing occurs also during sleep …

Breathing disorders in Rett syndrome: progressive neurochemical dysfunction in the respiratory network after birth

DM Katz, M Dutschmann, JM Ramirez… - Respiratory physiology & …, 2009 - Elsevier
Disorders of respiratory control are a prominent feature of Rett syndrome (RTT), a severely
debilitating condition caused by mutations in the gene encoding methyl-CpG-binding protein …

The role of serotonin in respiratory function and dysfunction

G Hilaire, N Voituron, C Menuet, RM Ichiyama… - Respiratory physiology …, 2010 - Elsevier
Serotonin (5-HT) is a neuromodulator–transmitter influencing global brain function. Past and
present findings illustrate a prominent role for 5-HT in the modulation of ponto-medullary …

Apnea of prematurity: pathogenesis and management strategies

OP Mathew - Journal of Perinatology, 2011 - nature.com
Apnea of prematurity (AOP) is a significant clinical problem manifested by an unstable
respiratory rhythm reflecting the immaturity of respiratory control systems. This review will …