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(Reference retrieved automatically from Web of Science through information on FAPESP grant and its corresponding number as mentioned in the publication by the authors.)

The Pathophysiology of Rett Syndrome With a Focus on Breathing Dysfunctions

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Author(s):
Ramirez, Jan-Marino [1, 2, 3] ; Karlen-Amarante, Marlusa [2, 4] ; Wang, Jia-Der Ju [2] ; Bush, Nicholas E. [2] ; Carroll, Michael S. [5, 6, 7] ; Weese-Mayer, Debra E. [6, 7] ; Huff, Alyssa [2]
Total Authors: 7
Affiliation:
[1] Univ Washington, Sch Med, Dept Pediat, Seattle, WA 98195 - USA
[2] Univ Washington, Sch Med, Ctr Integrat Brain Res, Seattle Childrens Res Inst, Seattle, WA 98195 - USA
[3] Univ Washington, Sch Med, Dept Neurol Surg, Seattle, WA 98195 - USA
[4] Sao Paulo State Univ UNESP, Sch Dent Araraquara, Dept Physiol & Pathol, Araraquara, SP - Brazil
[5] Ann & Robert H Lurie Childrens Hosp Chicago, Data Analyt & Reporting, Chicago, IL 60611 - USA
[6] Northwestern Univ, Dept Pediat, Feinberg Sch Med, Chicago, IL 60611 - USA
[7] Ann & Robert H Lurie Childrens Hosp Chicago, Div Auton Med, Chicago, IL 60611 - USA
Total Affiliations: 7
Document type: Review article
Source: PHYSIOLOGY; v. 35, n. 6, p. 375-390, NOV 2020.
Web of Science Citations: 1
Abstract

Rett syndrome (RTT), an X-chromosome-linked neurological disorder, is characterized by serious pathophysiology, including breathing and feeding dysfunctions, and alteration of cardiorespiratory coupling, a consequence of multiple interrelated disturbances in the genetic and homeostatic regulation of central and peripheral neuronal networks, redox state, and control of inflammation. Characteristic breath-holds, obstructive sleep apnea, and aerophagia result in intermittent hypoxia, which, combined with mitochondrial dysfunction, causes oxidative stress-an important driver of the clinical presentation of RTT. (AU)

FAPESP's process: 16/23513-1 - Experimental pathophysiology: role of central mechanisms of the cardiovascular and respiratory control changes induced by experimental Hypertension and Obesity
Grantee:Marlusa Karlen Amarante
Support Opportunities: Scholarships in Brazil - Post-Doctoral
FAPESP's process: 19/11696-2 - Participation of respiratory oscillators on the modulation of RVLM presympathetic neurons in offspring from obese dams
Grantee:Marlusa Karlen Amarante
Support Opportunities: Scholarships abroad - Research Internship - Post-doctor