4.8 Review

Emerging major synaptic signaling pathways involved in intellectual disability

相关参考文献

注意:仅列出部分参考文献,下载原文获取全部文献信息。
Review Cell Biology

Regulation of PIP5K Activity by Arf6 and Its Physiological Significance

Yuji Funakoshi et al.

JOURNAL OF CELLULAR PHYSIOLOGY (2011)

Article Multidisciplinary Sciences

Autism-linked neuroligin-3 R451C mutation differentially alters hippocampal and cortical synaptic function

Mark Etherton et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2011)

Article Genetics & Heredity

A Focal Epilepsy and Intellectual Disability Syndrome Is Due to a Mutation in TBC1D24

Mark A. Corbett et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

TBC1D24, an ARF6-Interacting Protein, Is Mutated in Familial Infantile Myoclonic Epilepsy

Antonio Falace et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2010)

Article Genetics & Heredity

Aarskog-Scott Syndrome: Clinical Update and Report of Nine Novel Mutations of the FGD1 Gene

A. Orrico et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2010)

Review Neurosciences

Molecular and Cellular Mechanisms of Learning Disabilities: A Focus on NF1

C. Shilyansky et al.

ANNUAL REVIEW OF NEUROSCIENCE, VOL 33 (2010)

Article Biochemistry & Molecular Biology

A Postsynaptic Signaling Pathway that May Account for the Cognitive Defect Due to IL1RAPL1 Mutation

Alice Pavlowsky et al.

CURRENT BIOLOGY (2010)

Review Pharmacology & Pharmacy

Rho-kinase inhibition: a novel therapeutic target for the treatment of cardiovascular diseases

Ming Dong et al.

DRUG DISCOVERY TODAY (2010)

Article Biochemistry & Molecular Biology

Coffin-Lowry syndrome

Patricia Marques Pereira et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2010)

Article Neurosciences

PH-Domain-driven targeting of collybistin but not Cdc42 activation is required for synaptic gephyrin clustering

Suneel Reddy-Alla et al.

EUROPEAN JOURNAL OF NEUROSCIENCE (2010)

Article Biochemistry & Molecular Biology

Rho-kinase inactivation prolongs survival of an intermediate SMA mouse model

Melissa Bowerman et al.

HUMAN MOLECULAR GENETICS (2010)

Article Biochemistry & Molecular Biology

The Rho-Linked Mental Retardation Protein OPHN1 Controls Synaptic Vesicle Endocytosis via Endophilin A1

Akiko Nakano-Kobayashi et al.

CURRENT BIOLOGY (2009)

Review Neurosciences

Dendritic spine formation and stabilization

Yoshihiro Yoshihara et al.

CURRENT OPINION IN NEUROBIOLOGY (2009)

Article Biochemistry & Molecular Biology

Inhibition of RhoA pathway rescues the endocytosis defects in Oligophrenin1 mouse model of mental retardation

Malik Khelfaoui et al.

HUMAN MOLECULAR GENETICS (2009)

Review Biochemistry & Molecular Biology

X-linked mental retardation: focus on synaptic function and plasticity

Yann Humeau et al.

JOURNAL OF NEUROCHEMISTRY (2009)

Article Medicine, General & Internal

Mutations in SYNGAP1 in Autosomal nonsyndromic Mental Retardation

Fadi F. Hamdan et al.

NEW ENGLAND JOURNAL OF MEDICINE (2009)

Review Peripheral Vascular Disease

RhoA/Rho-kinase signaling: a therapeutic target in pulmonary hypertension

Scott A. Barman et al.

VASCULAR HEALTH AND RISK MANAGEMENT (2009)

Article Genetics & Heredity

Association of syndromic mental retardation with an Xq12q13.1 duplication encompassing the oligophrenin 1 gene

Maria Francesca Bedeschi et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Article Genetics & Heredity

Novel Mutation of IL1RAPL1 Gene in a Nonspecific X-Linked Mental Retardation (MRX) Family

Magdalena Nawara et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2008)

Review Behavioral Sciences

Genes, plasticity and mental retardation

Cyrille Vaillend et al.

BEHAVIOURAL BRAIN RESEARCH (2008)

Article Biochemistry & Molecular Biology

Rapid and bi-directional regulation of AMPA receptor phosphorylation and trafficking by JNK

Gareth M. Thomas et al.

EMBO JOURNAL (2008)

Article Biochemistry & Molecular Biology

Mutations in the calcium-related gene IL1RAPL1 are associated with autism

Amelie Piton et al.

HUMAN MOLECULAR GENETICS (2008)

Article Neurosciences

SynGAP Regulates Steady-State and Activity-Dependent Phosphorylation of Cofilin

Holly J. Carlisle et al.

JOURNAL OF NEUROSCIENCE (2008)

Article Biochemistry & Molecular Biology

αPIX Rho GTPase guanine nucleotide exchange factor regulates lymphocyte functions and antigen receptor signaling

Karine Missy et al.

MOLECULAR AND CELLULAR BIOLOGY (2008)

Article Multidisciplinary Sciences

Neuroligins and neurexins link synaptic function to cognitive disease

Thomas C. Sudhof

NATURE (2008)

Article Multidisciplinary Sciences

The Coffin-Lowry syndrome-associated protein RSK2 is implicated in calcium-regulated exocytosis through the regulation of PLD1

Maria Zeniou-Meyer et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)

Article Genetics & Heredity

PAK3 related mental disabillity:: Further characterization of the phenotype

Maarit Peippo et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2007)

Article Biochemistry & Molecular Biology

Impaired GABAergic transmission and altered hippocampal synaptic plasticity in collybistin-deficient mice

Theofilos Papadopoulos et al.

EMBO JOURNAL (2007)

Article Cell Biology

ARF6 in the nervous system

Jacek Jaworski

EUROPEAN JOURNAL OF CELL BIOLOGY (2007)

Article Endocrinology & Metabolism

A dual role for interleukin-1 in hippocampal-dependent memory processes

Inbal Goshen et al.

PSYCHONEUROENDOCRINOLOGY (2007)

Article Biochemistry & Molecular Biology

The p21-activated kinase 3 implicated in mental retardation regulates spine morphogenesis through a Cdc42-dependent pathway

Patricia Kreis et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2007)

Review Genetics & Heredity

LIM kinases: function, regulation and association with human disease

Rebecca W. Scott et al.

JOURNAL OF MOLECULAR MEDICINE-JMM (2007)

Article Multidisciplinary Sciences

IL1-receptor accessory protein-like 1 (IL1RAPL1), a protein involved in cognitive functions, regulates N-type Ca2+-channel and neurite elongation

Frederic Gambino et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Review Peripheral Vascular Disease

RhoA/Rho-kinase pathway:: much more than just a modulation of vascular tone.: Evidence from studies in humans

Lorenzo A. Calo et al.

JOURNAL OF HYPERTENSION (2007)

Article Neurosciences

A WAVE-1 and WRP signaling complex regulates spine density, synaptic plasticity, and memory

Scott H. Soderling et al.

JOURNAL OF NEUROSCIENCE (2007)

Article Multidisciplinary Sciences

Enhancement of learning and memory after activation of cerebral Rho GTPases

Giovanni Diana et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2007)

Article Cell Biology

Sequential implication of the mental retardation proteins ARHGEF6 and PAK3 in spine morphogenesis

Roxanne Node-Langlois et al.

JOURNAL OF CELL SCIENCE (2006)

Review Cell Biology

ARF proteins: roles in membrane traffic and beyond

C D'Souza-Schorey et al.

NATURE REVIEWS MOLECULAR CELL BIOLOGY (2006)

Article Genetics & Heredity

A truncating mutation in the IL1RAPL1 gene is responsible for X-linked mental retardation in the MRX21 family

E Tabolacci et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2006)

Review Biochemistry & Molecular Biology

Genetics and pathophysiology of mental retardation

Jamel Chelly et al.

EUROPEAN JOURNAL OF HUMAN GENETICS (2006)

Article Cell Biology

State-dependent Ras signaling and AMPA receptor trafficking

Y Qin et al.

GENES & DEVELOPMENT (2005)

Review Cell Biology

The role of the Rho GTPases in neuronal development

EE Govek et al.

GENES & DEVELOPMENT (2005)

Article Genetics & Heredity

Mutations in the DLG3 gene cause nonsyndromic X-linked mental retardation

P Tarpey et al.

AMERICAN JOURNAL OF HUMAN GENETICS (2004)

Article Biochemistry & Molecular Biology

Crystal structure of the Toll/interleukin-1 receptor domain of human IL-1RAPL

JA Khan et al.

JOURNAL OF BIOLOGICAL CHEMISTRY (2004)

Article Neurosciences

SynGAP regulates spine formation

LE Vazquez et al.

JOURNAL OF NEUROSCIENCE (2004)

Review Biochemistry & Molecular Biology

Multiple roles for Arf6: Sorting, structuring, and signaling at the plasma membrane

JG Donaldson

JOURNAL OF BIOLOGICAL CHEMISTRY (2003)

Article Genetics & Heredity

X-linked mild non-syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

AK Gedeon et al.

AMERICAN JOURNAL OF MEDICAL GENETICS PART A (2003)

Article Genetics & Heredity

Mutations in the oligophrenin-1 gene (OPHN1) cause X linked congenital cerebellar hypoplasia

N Philip et al.

JOURNAL OF MEDICAL GENETICS (2003)

Article Immunology

A dual role for interleukin-1 in LTP in mouse hippocampal slices

FM Ross et al.

JOURNAL OF NEUROIMMUNOLOGY (2003)

Article Multidisciplinary Sciences

The novel Rho-GTPase activating gene MEGAP/srGAP3 has a putative role in severe mental retardation

V Endris et al.

PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2002)

Review Neurosciences

Dendritic spine pathology: Cause or consequence of neurological disorders?

JC Fiala et al.

BRAIN RESEARCH REVIEWS (2002)

Review Neurosciences

Rho proteins, mental retardation and the cellular basis of cognition

GJA Ramakers

TRENDS IN NEUROSCIENCES (2002)

Review Neurosciences

PDZ domains and the organization of supramolecular complexes

M Sheng et al.

ANNUAL REVIEW OF NEUROSCIENCE (2001)

Review Neurosciences

Accessory factors in clathrin-dependent synaptic vesicle endocytosis

VI Slepnev et al.

NATURE REVIEWS NEUROSCIENCE (2000)

Review Neurosciences

Interleukin I in the brain: biology, pathology and therapeutic target

NJ Rothwell et al.

TRENDS IN NEUROSCIENCES (2000)

Review Cell Biology

Small G-protein networks - Their crosstalk and signal cascades

T Matozaki et al.

CELLULAR SIGNALLING (2000)