Glycogen synthase kinase-3 inhibitors: preclinical and clinical focus on CNS-A decade onward

SM Arciniegas Ruiz, H Eldar-Finkelman - Frontiers in molecular …, 2022 - frontiersin.org
The protein kinase, GSK-3, participates in diverse biological processes and is now
recognized a promising drug discovery target in treating multiple pathological conditions …

Rett syndrome: a complex disorder with simple roots

MJ Lyst, A Bird - Nature Reviews Genetics, 2015 - nature.com
Rett syndrome (RTT) is a severe neurological disorder caused by mutations in the X-linked
gene MECP2 (methyl-CpG-binding protein 2). Two decades of research have fostered the …

A mouse Mecp2-null mutation causes neurological symptoms that mimic Rett syndrome

J Guy, B Hendrich, M Holmes, JE Martin, A Bird - Nature genetics, 2001 - nature.com
Rett syndrome (RTT) is an inherited neurodevelopmental disorder of females that occurs
once in 10,000–15,000 births 1, 2. Affected females develop normally for 6–18 months, but …

Inherited variants of MYH associated with somatic G:C→T:A mutations in colorectal tumors

N Al-Tassan, NH Chmiel, J Maynard, N Fleming… - Nature …, 2002 - nature.com
Inherited defects of base excision repair have not been associated with any human genetic
disorder, although mutations of the genes mutM and mutY, which function in Escherichia coli …

MeCP2: the genetic driver of Rett syndrome epigenetics

KV Good, JB Vincent, J Ausió - Frontiers in Genetics, 2021 - frontiersin.org
Mutations in methyl CpG binding protein 2 (MeCP2) are the major cause of Rett syndrome
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …

Clinical and biological progress over 50 years in Rett syndrome

H Leonard, S Cobb, J Downs - Nature Reviews Neurology, 2017 - nature.com
In the 50 years since Andreas Rett first described the syndrome that came to bear his name,
and is now known to be caused by a mutation in the methyl-CpG-binding protein 2 (MECP2) …

Specific mutations in Methyl-CpG-Binding Protein 2 confer different severity in Rett syndrome

JL Neul, P Fang, J Barrish, J Lane, EB Caeg… - Neurology, 2008 - AAN Enterprises
Objective: To determine if a relationship exists between the clinical features of Rett
syndrome, an X-linked dominant neurodevelopmental disorder, and specific mutations in …

Early intervention in autism

CM Corsello - Infants & young children, 2005 - journals.lww.com
We now know that professionals can diagnose children with autism when they are as young
as 2 years of age (Lord, 1995). Screening and the role of the pediatrician have become even …

Mutations of CDKL5 cause a severe neurodevelopmental disorder with infantile spasms and mental retardation

LS Weaving, J Christodoulou, SL Williamson… - The American Journal of …, 2004 - cell.com
Rett syndrome (RTT) is a severe neurodevelopmental disorder caused, in most classic
cases, by mutations in the X-linked methyl-CpG-binding protein 2 gene (MECP2). A large …

Specific genetic disorders and autism: clinical contribution towards their identification

D Cohen, N Pichard, S Tordjman, C Baumann… - Journal of autism and …, 2005 - Springer
Autism is a heterogeneous disorder that can reveal a specific genetic disease. This paper
describes several genetic diseases consistently associated with autism (fragile X, tuberous …