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。Neuroligin-3-deficient mice: model of a monogenic heritable form of autism with an olfactory deficit
K. Radyushkin et al.
GENES BRAIN AND BEHAVIOR (2009)
A Neuroligin-4 Missense Mutation Associated with Autism Impairs Neuroligin-4 Folding and Endoplasmic Reticulum Export
Chen Zhang et al.
JOURNAL OF NEUROSCIENCE (2009)
α/βHydrolase Fold: An Update
David L. Ollis et al.
PROTEIN AND PEPTIDE LETTERS (2009)
Autistic phenotypes and genetic testing: state-of-the-art for the clinical geneticist
C. Lintas et al.
JOURNAL OF MEDICAL GENETICS (2009)
Familial deletion within NLGN4 associated with autism and Tourette syndrome
Amy Lawson-Yuen et al.
EUROPEAN JOURNAL OF HUMAN GENETICS (2008)
The cholinesterase-like domain of thyroglobulin functions as an intramolecular chaperone
Jaemin Lee et al.
JOURNAL OF CLINICAL INVESTIGATION (2008)
Neuroligins and neurexins link synaptic function to cognitive disease
Thomas C. Sudhof
NATURE (2008)
Neurexin 1α structural variants associated with autism
Jin Yan et al.
NEUROSCIENCE LETTERS (2008)
A drug-controllable tag for visualizing newly synthesized proteins in cells and whole animals
Michael Z. Lin et al.
PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA (2008)
Phenotypic variation among four family members with congenital hypothyroidism caused by two distinct thyroglobulin gene mutations
Viviane Pardo et al.
THYROID (2008)
Structural basis for synaptic adhesion mediated by neuroligin-neurexin interactions
Xiaoyan Chen et al.
NATURE STRUCTURAL & MOLECULAR BIOLOGY (2008)
Structures of neuroligin-1 and the Neuroligin-l/Neurexin-1β complex reveal specificprotein-protein and protein-Ca2+ interactions
Demet Arac et al.
NEURON (2007)
Structural analysis of the synaptic protein neuroligin and its β-neurexin complex:: Determinants for folding and cell adhesion
Igor P. Fabrichny et al.
NEURON (2007)
Neuroligin-3 mutation implicated in autism increases inhibitory synaptic transmission in mice
Katsuhiko Tabuchi et al.
SCIENCE (2007)
In and out of the ER: Protein folding, quality control, degradation, and related human diseases
Daniel N. Hebert et al.
PHYSIOLOGICAL REVIEWS (2007)
Congenital hypothyroidism with goitre caused by new mutations in the thyroglobulin gene
Mariela Caputo et al.
CLINICAL ENDOCRINOLOGY (2007)
Activity-dependent validation of excitatory versus inhibitory synapses by neuroligin-1 versus neuroligin-2
Alexander A. Chubykin et al.
NEURON (2007)
Oxidoreductase interactions include a role for ERp72 engagement with mutant thyroglobulin from the rdw/rdw rat dwarf
Shekar Menon et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2007)
High frequency of neurexin 1β signal peptide structural variants in patients with autism
Jinong Feng et al.
NEUROSCIENCE LETTERS (2006)
Gene selection, alternative splicing, and post-translational processing regulate neuroligin selectivity for β-neurexins
Davide Comoletti et al.
BIOCHEMISTRY (2006)
Protein disulfide isomerase-like proteins play opposing roles during retrotranslocation
Michele L. Forster et al.
JOURNAL OF CELL BIOLOGY (2006)
Novel splice isoforms for NLGN3 and NLGN4 with possible implications in autism
Z Talebizadeh et al.
JOURNAL OF MEDICAL GENETICS (2006)
A mutation linked with autism reveals a common mechanism of endoplasmic reticulum retention for the α,β-hydrolase fold protein family
A De Jaco et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Mechanisms of pharmacological rescue of trafficking-defective hERG mutant channels in human long QT syndrome
QM Gong et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2006)
Dissection of synapse induction by neuroligins -: Effect of a neuroligin mutation associated with autism
AA Chubykin et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2005)
Analysis of the neuroligin 3 and 4 genes in autism and other neuropsychiatric patients
J Yan et al.
MOLECULAR PSYCHIATRY (2005)
Naturally occurring mutations in the thyroglobulin gene
J Vono-Toniolo et al.
THYROID (2005)
The human protein disulphide isomerase family: substrate interactions and functional properties
L Ellgaard et al.
EMBO REPORTS (2005)
X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family
F Laumonnier et al.
AMERICAN JOURNAL OF HUMAN GENETICS (2004)
Disorder-associated mutations lead to functional inactivation of neuroligins
B Chih et al.
HUMAN MOLECULAR GENETICS (2004)
The Arg451Cys-neuroligin-3 mutation associated with autism reveals a defect in protein processing
D Comoletti et al.
JOURNAL OF NEUROSCIENCE (2004)
Characterization of the interaction of a recombinant soluble neuroligin-1 with neurexin-1β
D Comoletti et al.
JOURNAL OF BIOLOGICAL CHEMISTRY (2003)
Compound heterozygous mutations in the thyroglobulin gene (1143delC and 6725G3→A [R2223H]) resulting in fetal goitrous hypothyroidism
P Caron et al.
JOURNAL OF CLINICAL ENDOCRINOLOGY & METABOLISM (2003)
Butyrylcholinesterase (BCHE) genotyping for post-succinylcholine apnea in an Australian population
T Yen et al.
CLINICAL CHEMISTRY (2003)
Mutations of the X-linked genes encoding neuroligins NLGN3 and NLGN4 are associated with autism
S Jamain et al.
NATURE GENETICS (2003)
Making connections: cholinesterase-domain proteins in the CNS
FG Scholl et al.
TRENDS IN NEUROSCIENCES (2003)
A missense mutation G2320R in the thyroglobulin gene causes nongoitrous congenital primary hypothyroidism in the WIC-rdw rat
PS Kim et al.
MOLECULAR ENDOCRINOLOGY (2000)
Dynamic interaction of BiP and ER stress transducers in the unfolded-protein response
A Bertolotti et al.
NATURE CELL BIOLOGY (2000)
分享论文
