Functional characterization of CDK5 and CDK5R1 mutations identified in patients with non-syndromic intellectual disability

Autosomal recessive lissencephaly with cerebellar hypoplasia is associated with a loss-of-function mutation in CDK5

(2015) Daniella Magen et al.   HUMAN GENETICS

hnRNPA2/B1 and nELAV proteins bind to a specific U-rich element in CDK5R1 3′-UTR and oppositely regulate its expression

(2014) Paola Zuccotti et al.   Biochimica et Biophysica Acta-Gene Regulatory Mechanisms

The first case of CDK5RAP2-related primary microcephaly in a non-consanguineous patient identified by next generation sequencing

(2013) Christopher A. Tan et al.   BRAIN & DEVELOPMENT

Impaired Pre-mRNA Processing and Altered Architecture of 3' Untranslated Regions Contribute to the Development of Human Disorders

(2013) Eva Michalova et al.   INTERNATIONAL JOURNAL OF MOLECULAR SCIENCES

Genetics of recessive cognitive disorders

(2013) Luciana Musante et al.   TRENDS IN GENETICS

Fragile X and X-Linked Intellectual Disability: Four Decades of Discovery

(2012) Herbert A. Lubs et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A Noncoding, Regulatory Mutation Implicates HCFC1 in Nonsyndromic Intellectual Disability

(2012) Lingli Huang et al.   AMERICAN JOURNAL OF HUMAN GENETICS

A novel nonsenseCDK5RAP2mutation in a Somali child with primary microcephaly and sensorineural hearing loss

(2012) Alistair T. Pagnamenta et al.   AMERICAN JOURNAL OF MEDICAL GENETICS PART A

Huntington's Disease and its therapeutic target genes: a global functional profile based on the HD Research Crossroads database

(2012) Ravi Kiran Reddy Kalathur et al.   BMC Neurology

Excess of De Novo Deleterious Mutations in Genes Associated with Glutamatergic Systems in Nonsyndromic Intellectual Disability

(2011) Fadi F. Hamdan et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Cyclin-Dependent Kinases in Brain Development and Disease

(2011) Susan C. Su et al.   Annual Review of Cell and Developmental Biology

Cyclin-Dependent Kinase 5 Activator p25 Is Generated During Memory Formation and Is Reduced at an Early Stage in Alzheimer's Disease

(2011) Olivia Engmann et al.   BIOLOGICAL PSYCHIATRY

Schizophrenia is associated with dysregulation of a Cdk5 activator that regulates synaptic protein expression and cognition

(2011) Olivia Engmann et al.   BRAIN

The Role of miR-103 and miR-107 in Regulation of CDK5R1 Expression and in Cellular Migration

(2011) Silvia Moncini et al.   PLoS One

A de novo paradigm for mental retardation

(2010) Lisenka E L M Vissers et al.   NATURE GENETICS

The Alzheimer's associated 5′ region of the SORL1 gene cis regulates SORL1 transcripts expression

(2010) Jeanette J. McCarthy et al.   NEUROBIOLOGY OF AGING

De novoSTXBP1mutations in mental retardation and nonsyndromic epilepsy

(2009) Fadi F. Hamdan et al.   ANNALS OF NEUROLOGY

Role of 5′- and 3′-untranslated regions of mRNAs in human diseases

(2009) Sangeeta Chatterjee et al.   BIOLOGY OF THE CELL

Mutations inSYNGAP1in Autosomal Nonsyndromic Mental Retardation

(2009) Fadi F. Hamdan et al.   NEW ENGLAND JOURNAL OF MEDICINE

Making a neuron: Cdk5 in embryonic and adult neurogenesis

(2009) Sebastian Jessberger et al.   TRENDS IN NEUROSCIENCES

Epistasis between tau phosphorylation regulating genes (CDK5R1 and GSK-3β) and Alzheimer’s disease risk

(2008) I. Mateo et al.   ACTA NEUROLOGICA SCANDINAVICA

Alterations in CDH15 and KIRREL3 in Patients with Mild to Severe Intellectual Disability

(2008) Kavita Bhalla et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Genetics of intellectual disability

(2008) H Hilger Ropers   CURRENT OPINION IN GENETICS & DEVELOPMENT