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 …
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 …
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
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 …
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 …
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 …
(RTT), a rare neurodevelopmental disorder with a notable period of developmental …
Clinical and biological progress over 50 years in Rett syndrome
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) …
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 …
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 …
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 …
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 …
describes several genetic diseases consistently associated with autism (fragile X, tuberous …