Published in Proc Natl Acad Sci U S A on June 30, 2008
Phosphoinositides: tiny lipids with giant impact on cell regulation. Physiol Rev (2013) 3.21
Linking lipids to Alzheimer's disease: cholesterol and beyond. Nat Rev Neurosci (2011) 2.60
Down syndrome--recent progress and future prospects. Hum Mol Genet (2009) 1.85
Mutations in phosphoinositide metabolizing enzymes and human disease. Physiology (Bethesda) (2009) 1.56
Molecular genetic analysis of Down syndrome. Hum Genet (2009) 1.52
Phospholipid dysregulation contributes to ApoE4-associated cognitive deficits in Alzheimer's disease pathogenesis. Proc Natl Acad Sci U S A (2015) 1.46
Synaptojanin 1-mediated PI(4,5)P2 hydrolysis is modulated by membrane curvature and facilitates membrane fission. Dev Cell (2011) 1.44
Channelopathies linked to plasma membrane phosphoinositides. Pflugers Arch (2010) 1.42
Down syndrome: searching for the genetic culprits. Dis Model Mech (2011) 1.28
Regulation of postsynaptic AMPA responses by synaptojanin 1. Proc Natl Acad Sci U S A (2008) 1.20
Identification of the translocation breakpoints in the Ts65Dn and Ts1Cje mouse lines: relevance for modeling Down syndrome. Mamm Genome (2011) 1.19
The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive Parkinsonism with generalized seizures. Hum Mutat (2013) 1.17
Inositol 5-phosphatases: insights from the Lowe syndrome protein OCRL. Trends Biochem Sci (2012) 1.14
The inositol 5-phosphatase SHIP2 regulates endocytic clathrin-coated pit dynamics. J Cell Biol (2010) 1.11
Proteomic studies of a single CNS synapse type: the parallel fiber/purkinje cell synapse. PLoS Biol (2009) 1.11
Upregulation of three Drosophila homologs of human chromosome 21 genes alters synaptic function: implications for Down syndrome. Proc Natl Acad Sci U S A (2009) 1.08
Phosphoinositide phosphatases in cell biology and disease. Prog Lipid Res (2010) 1.05
Tweek, an evolutionarily conserved protein, is required for synaptic vesicle recycling. Neuron (2009) 1.02
Phosphatidylinositol-4-phosphate 5-kinases and phosphatidylinositol 4,5-bisphosphate synthesis in the brain. J Biol Chem (2010) 1.01
Phosphoinositide control of membrane protein function: a frontier led by studies on ion channels. Annu Rev Physiol (2014) 0.99
Trisomy for synaptojanin1 in Down syndrome is functionally linked to the enlargement of early endosomes. Hum Mol Genet (2012) 0.99
Allogeneic T cell responses are regulated by a specific miRNA-mRNA network. J Clin Invest (2013) 0.98
Reduction of synaptojanin 1 ameliorates synaptic and behavioral impairments in a mouse model of Alzheimer's disease. J Neurosci (2012) 0.96
Synaptojanin-1 plays a key role in astrogliogenesis: possible relevance for Down's syndrome. Cell Death Differ (2009) 0.94
Abnormal microRNA expression in Ts65Dn hippocampus and whole blood: contributions to Down syndrome phenotypes. Dev Neurosci (2011) 0.92
Down syndrome and Alzheimer's disease: Common pathways, common goals. Alzheimers Dement (2014) 0.90
Cellular and molecular interactions of phosphoinositides and peripheral proteins. Chem Phys Lipids (2014) 0.89
Role of phosphoinositides at the neuronal synapse. Subcell Biochem (2012) 0.87
The Voltage Activation of Cortical KCNQ Channels Depends on Global PIP2 Levels. Biophys J (2016) 0.86
Distribution and neuronal expression of phosphatidylinositol phosphate kinase IIgamma in the mouse brain. J Comp Neurol (2009) 0.86
Activity-dependent facilitation of Synaptojanin and synaptic vesicle recycling by the Minibrain kinase. Nat Commun (2014) 0.86
A mouse embryonic stem cell bank for inducible overexpression of human chromosome 21 genes. Genome Biol (2010) 0.86
Synaptojanin cooperates in vivo with endophilin through an unexpected mechanism. Elife (2015) 0.84
Synaptojanin 1 mutation in Parkinson's disease brings further insight into the neuropathological mechanisms. Biomed Res Int (2014) 0.83
Reduction of synaptojanin 1 accelerates Aβ clearance and attenuates cognitive deterioration in an Alzheimer mouse model. J Biol Chem (2013) 0.83
Synaptophysin and synaptojanin-1 in Down syndrome are differentially affected by Alzheimer's disease. J Alzheimers Dis (2014) 0.83
Identification of inhibitors of inositol 5-phosphatases through multiple screening strategies. ACS Chem Biol (2014) 0.82
The structure of phosphoinositide phosphatases: Insights into substrate specificity and catalysis. Biochim Biophys Acta (2014) 0.80
Fig4 deficiency: a newly emerged lysosomal storage disorder? Prog Neurobiol (2012) 0.80
Detection and manipulation of phosphoinositides. Biochim Biophys Acta (2014) 0.79
Dissecting Alzheimer disease in Down syndrome using mouse models. Front Behav Neurosci (2015) 0.79
Describing the hexapeptide identity platform between the influenza A H5N1 and Homo sapiens proteomes. Biologics (2010) 0.79
Creation and characterization of BAC-transgenic mice with physiological overexpression of epitope-tagged RCAN1 (DSCR1). Mamm Genome (2012) 0.79
Molecular and cellular alterations in Down syndrome: toward the identification of targets for therapeutics. Neural Plast (2012) 0.78
Screening assay for small-molecule inhibitors of synaptojanin 1, a synaptic phosphoinositide phosphatase. J Biomol Screen (2013) 0.77
The use of mouse models for understanding the biology of down syndrome and aging. Curr Gerontol Geriatr Res (2012) 0.77
Alternate promoter usage generates two subpopulations of the neuronal RhoGEF Kalirin-7. J Neurochem (2016) 0.77
Coordinated Expression of Phosphoinositide Metabolic Genes during Development and Aging of Human Dorsolateral Prefrontal Cortex. PLoS One (2015) 0.76
Down syndrome and the molecular pathogenesis resulting from trisomy of human chromosome 21. J Biomed Res (2010) 0.76
Brain disorders: getting 'Down' to the gene. Nat Neurosci (2010) 0.76
The Sac domain-containing phosphoinositide phosphatases: structure, function, and disease. Front Biol (Beijing) (2013) 0.76
Synaptic Vesicle-Recycling Machinery Components as Potential Therapeutic Targets. Pharmacol Rev (2017) 0.75
A de novo 2.78-Mb duplication on chromosome 21q22.11 implicates candidate genes in the partial trisomy 21 phenotype. NPJ Genom Med (2016) 0.75
PIP2: a new key player in Alzheimer's disease. Cellscience (2008) 0.75
Characterization of PTZ-induced seizure susceptibility in a down syndrome mouse model that overexpresses CSTB. PLoS One (2011) 0.75
Phosphoinositides in cell regulation and membrane dynamics. Nature (2006) 14.00
Down's syndrome. Lancet (2003) 5.10
A mouse model for Down syndrome exhibits learning and behaviour deficits. Nat Genet (1995) 4.95
NFAT dysregulation by increased dosage of DSCR1 and DYRK1A on chromosome 21. Nature (2006) 4.80
Essential role of phosphoinositide metabolism in synaptic vesicle recycling. Cell (1999) 4.70
The use of the elevated plus maze as an assay of anxiety-related behavior in rodents. Nat Protoc (2007) 4.51
The complex and intriguing lives of PIP2 with ion channels and transporters. Sci STKE (2001) 4.45
Regulation of ion channels by phosphatidylinositol 4,5-bisphosphate. Curr Opin Neurobiol (2005) 3.94
A presynaptic inositol-5-phosphatase. Nature (1996) 3.54
Increased App expression in a mouse model of Down's syndrome disrupts NGF transport and causes cholinergic neuron degeneration. Neuron (2006) 3.51
Synaptojanin is recruited by endophilin to promote synaptic vesicle uncoating. Neuron (2003) 2.96
Impaired PtdIns(4,5)P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking. Nature (2004) 2.81
Endocytic protein intersectin-l regulates actin assembly via Cdc42 and N-WASP. Nat Cell Biol (2001) 2.75
The dual phosphatase activity of synaptojanin1 is required for both efficient synaptic vesicle endocytosis and reavailability at nerve terminals. Neuron (2007) 2.36
Mutations in synaptojanin disrupt synaptic vesicle recycling. J Cell Biol (2000) 2.17
Persistent improvement in synaptic and cognitive functions in an Alzheimer mouse model after rolipram treatment. J Clin Invest (2004) 2.13
EphrinB-EphB signalling regulates clathrin-mediated endocytosis through tyrosine phosphorylation of synaptojanin 1. Nat Cell Biol (2005) 2.02
Mouse models of Down syndrome: how useful can they be? Comparison of the gene content of human chromosome 21 with orthologous mouse genomic regions. Gene (2003) 1.93
Regulation of synaptojanin 1 by cyclin-dependent kinase 5 at synapses. Proc Natl Acad Sci U S A (2004) 1.84
The role of modulatory calcineurin-interacting proteins in calcineurin signaling. Trends Cardiovasc Med (2003) 1.80
Gene expression from the aneuploid chromosome in a trisomy mouse model of down syndrome. Genome Res (2004) 1.75
Failed retrograde transport of NGF in a mouse model of Down's syndrome: reversal of cholinergic neurodegenerative phenotypes following NGF infusion. Proc Natl Acad Sci U S A (2001) 1.72
Phosphatidylinositol 4,5-bisphosphate phosphatase regulates the rearrangement of actin filaments. Mol Cell Biol (1997) 1.65
App gene dosage modulates endosomal abnormalities of Alzheimer's disease in a segmental trisomy 16 mouse model of down syndrome. J Neurosci (2003) 1.59
Nonradioactive analysis of phosphatidylinositides and other anionic phospholipids by anion-exchange high-performance liquid chromatography with suppressed conductivity detection. Anal Biochem (2002) 1.57
The zebrafish nrc mutant reveals a role for the polyphosphoinositide phosphatase synaptojanin 1 in cone photoreceptor ribbon anchoring. J Neurosci (2004) 1.55
Presenilin mutations linked to familial Alzheimer's disease cause an imbalance in phosphatidylinositol 4,5-bisphosphate metabolism. Proc Natl Acad Sci U S A (2006) 1.48
Oligomeric amyloid-beta peptide disrupts phosphatidylinositol-4,5-bisphosphate metabolism. Nat Neurosci (2008) 1.46
Delayed reentry of recycling vesicles into the fusion-competent synaptic vesicle pool in synaptojanin 1 knockout mice. Proc Natl Acad Sci U S A (2002) 1.42
Quantitative PCR genotyping assay for the Ts65Dn mouse model of Down syndrome. Biotechniques (2003) 1.36
Down syndrome and genetics - a case of linked histories. Nat Rev Genet (2005) 1.31
The challenge of Down syndrome. Trends Mol Med (2006) 1.28
Genetic dissection of region associated with behavioral abnormalities in mouse models for Down syndrome. Pediatr Res (2000) 1.26
Synaptojanin 1 contributes to maintaining the stability of GABAergic transmission in primary cultures of cortical neurons. J Neurosci (2001) 1.19
Effects of mild early life stress on abnormal emotion-related behaviors in 5-HTT knockout mice. Behav Genet (2007) 1.10
Mouse models of cognitive disorders in trisomy 21: a review. Behav Genet (2006) 1.08
The proteins of human chromosome 21. Am J Med Genet C Semin Med Genet (2006) 1.07
Experimental parameters affecting the Morris water maze performance of a mouse model of Down syndrome. Behav Brain Res (2004) 1.04
An emerging role for PtdIns(4,5)P2-mediated signalling in human disease. Trends Pharmacol Sci (2005) 1.04
Excessive expression of synaptojanin in brains with Down syndrome. Brain Dev (2002) 0.99
MNB/DYRK1A phosphorylation regulates the interactions of synaptojanin 1 with endocytic accessory proteins. Biochem Biophys Res Commun (2006) 0.93
Regulation of transferrin recycling kinetics by PtdIns[4,5]P2 availability. FASEB J (2006) 0.93
Initial sequencing and comparative analysis of the mouse genome. Nature (2002) 96.15
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature (2007) 75.09
Landscape of transcription in human cells. Nature (2012) 20.18
Guidelines for the use and interpretation of assays for monitoring autophagy. Autophagy (2012) 20.08
Genome-wide associations of gene expression variation in humans. PLoS Genet (2005) 17.27
Requirement of hippocampal neurogenesis for the behavioral effects of antidepressants. Science (2003) 16.14
A whole-genome association study of major determinants for host control of HIV-1. Science (2007) 15.19
GENCODE: producing a reference annotation for ENCODE. Genome Biol (2006) 15.08
Phosphoinositides in cell regulation and membrane dynamics. Nature (2006) 14.00
Common regulatory variation impacts gene expression in a cell type-dependent manner. Science (2009) 11.28
Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med (2008) 10.88
Transcriptome and genome sequencing uncovers functional variation in humans. Nature (2013) 8.89
Expanded screening for HIV in the United States--an analysis of cost-effectiveness. N Engl J Med (2005) 8.49
The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science (2009) 8.23
The Oxford classification of IgA nephropathy: rationale, clinicopathological correlations, and classification. Kidney Int (2009) 7.45
The Oxford classification of IgA nephropathy: pathology definitions, correlations, and reproducibility. Kidney Int (2009) 7.19
Analyses of deep mammalian sequence alignments and constraint predictions for 1% of the human genome. Genome Res (2007) 7.05
Genome scan meta-analysis of schizophrenia and bipolar disorder, part II: Schizophrenia. Am J Hum Genet (2003) 6.63
A single motif responsible for ubiquitin recognition and monoubiquitination in endocytic proteins. Nature (2002) 6.22
Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder. Nat Genet (2011) 5.73
Structural basis of membrane invagination by F-BAR domains. Cell (2008) 5.41
Numerous potentially functional but non-genic conserved sequences on human chromosome 21. Nature (2002) 5.38
Editing-defective tRNA synthetase causes protein misfolding and neurodegeneration. Nature (2006) 5.07
Dynamin and the actin cytoskeleton cooperatively regulate plasma membrane invagination by BAR and F-BAR proteins. Dev Cell (2005) 5.02
A selective activity-dependent requirement for dynamin 1 in synaptic vesicle endocytosis. Science (2007) 4.86
A high-resolution anatomical atlas of the transcriptome in the mouse embryo. PLoS Biol (2011) 4.84
ABAD directly links Abeta to mitochondrial toxicity in Alzheimer's disease. Science (2004) 4.81
Conserved noncoding sequences are selectively constrained and not mutation cold spots. Nat Genet (2005) 4.79
RAB7L1 interacts with LRRK2 to modify intraneuronal protein sorting and Parkinson's disease risk. Neuron (2013) 4.67
Human chromosome 21 gene expression atlas in the mouse. Nature (2002) 4.36
Prominent use of distal 5' transcription start sites and discovery of a large number of additional exons in ENCODE regions. Genome Res (2007) 4.33
GTP-dependent twisting of dynamin implicates constriction and tension in membrane fission. Nature (2006) 4.18
Identification of an organelle receptor for myosin-Va. Nat Cell Biol (2002) 4.06
Recruitment and regulation of phosphatidylinositol phosphate kinase type 1 gamma by the FERM domain of talin. Nature (2002) 4.03
Copy number variants and genetic traits: closer to the resolution of phenotypic to genotypic variability. Nat Rev Genet (2007) 3.98
Conserved non-genic sequences - an unexpected feature of mammalian genomes. Nat Rev Genet (2005) 3.97
The implications of alternative splicing in the ENCODE protein complement. Proc Natl Acad Sci U S A (2007) 3.93
Dynamin, a membrane-remodelling GTPase. Nat Rev Mol Cell Biol (2012) 3.92
Tandem chimerism as a means to increase protein complexity in the human genome. Genome Res (2005) 3.89
BAR, F-BAR (EFC) and ENTH/ANTH domains in the regulation of membrane-cytosol interfaces and membrane curvature. Biochim Biophys Acta (2006) 3.83
Pseudogenes in the ENCODE regions: consensus annotation, analysis of transcription, and evolution. Genome Res (2007) 3.82
Evolutionary discrimination of mammalian conserved non-genic sequences (CNGs). Science (2003) 3.77
The BAR domain superfamily: membrane-molding macromolecules. Cell (2009) 3.74
Comparison of mouse and human genomes followed by experimental verification yields an estimated 1,019 additional genes. Proc Natl Acad Sci U S A (2003) 3.73
Cyclophilin D deficiency attenuates mitochondrial and neuronal perturbation and ameliorates learning and memory in Alzheimer's disease. Nat Med (2008) 3.69
Learning and memory and synaptic plasticity are impaired in a mouse model of Rett syndrome. J Neurosci (2006) 3.69
Common genetic variation and the control of HIV-1 in humans. PLoS Genet (2009) 3.68
Amphiphysin 2 (Bin1) and T-tubule biogenesis in muscle. Science (2002) 3.68
Genetic structure of Europeans: a view from the North-East. PLoS One (2009) 3.46
Dual role of 3-methyladenine in modulation of autophagy via different temporal patterns of inhibition on class I and III phosphoinositide 3-kinase. J Biol Chem (2010) 3.45
Coordinated actions of actin and BAR proteins upstream of dynamin at endocytic clathrin-coated pits. Dev Cell (2009) 3.42
Angiotensin receptor agonistic autoantibodies induce pre-eclampsia in pregnant mice. Nat Med (2008) 3.36
BLUEPRINT to decode the epigenetic signature written in blood. Nat Biotechnol (2012) 3.24
Picomolar amyloid-beta positively modulates synaptic plasticity and memory in hippocampus. J Neurosci (2008) 3.21
Submicroscopic deletion in patients with Williams-Beuren syndrome influences expression levels of the nonhemizygous flanking genes. Am J Hum Genet (2006) 3.18
Genome-wide association study identifies susceptibility loci for IgA nephropathy. Nat Genet (2011) 3.15
Exome sequencing identifies recurrent somatic MAP2K1 and MAP2K2 mutations in melanoma. Nat Genet (2011) 3.10
Genome scan meta-analysis of schizophrenia and bipolar disorder, part III: Bipolar disorder. Am J Hum Genet (2003) 3.02
Ubiquitin hydrolase Uch-L1 rescues beta-amyloid-induced decreases in synaptic function and contextual memory. Cell (2006) 3.01
Therapeutic suppression of translation initiation factor eIF4E expression reduces tumor growth without toxicity. J Clin Invest (2007) 3.01
An enzymatic cascade of Rab5 effectors regulates phosphoinositide turnover in the endocytic pathway. J Cell Biol (2005) 2.97
Quiescent fibroblasts exhibit high metabolic activity. PLoS Biol (2010) 2.94
DNAH5 mutations are a common cause of primary ciliary dyskinesia with outer dynein arm defects. Am J Respir Crit Care Med (2006) 2.92
FARP2 triggers signals for Sema3A-mediated axonal repulsion. Nat Neurosci (2005) 2.87
Fld1p, a functional homologue of human seipin, regulates the size of lipid droplets in yeast. J Cell Biol (2008) 2.85
Melamine related bilateral renal calculi in 50 children: single center experience in clinical diagnosis and treatment. J Urol (2010) 2.83
Phospho switch triggers Brd4 chromatin binding and activator recruitment for gene-specific targeting. Mol Cell (2013) 2.83
Impaired PtdIns(4,5)P2 synthesis in nerve terminals produces defects in synaptic vesicle trafficking. Nature (2004) 2.81
A phosphoinositide switch controls the maturation and signaling properties of APPL endosomes. Cell (2009) 2.77
PI(4,5)P(2)-dependent and Ca(2+)-regulated ER-PM interactions mediated by the extended synaptotagmins. Cell (2013) 2.72
Passive and active DNA methylation and the interplay with genetic variation in gene regulation. Elife (2013) 2.70
Structured RNAs in the ENCODE selected regions of the human genome. Genome Res (2007) 2.69
Lipid-induced insulin resistance mediated by the proinflammatory receptor TLR4 requires saturated fatty acid-induced ceramide biosynthesis in mice. J Clin Invest (2011) 2.68
Improved rapid amplification of cDNA ends (RACE) for mapping both the 5' and 3' terminal sequences of paramyxovirus genomes. J Virol Methods (2005) 2.66
Genome-wide copy-number-variation study identified a susceptibility gene, UGT2B17, for osteoporosis. Am J Hum Genet (2008) 2.65
Human microRNA-155 on chromosome 21 differentially interacts with its polymorphic target in the AGTR1 3' untranslated region: a mechanism for functional single-nucleotide polymorphisms related to phenotypes. Am J Hum Genet (2007) 2.62
Protein-lipid interactions and phosphoinositide metabolism in membrane traffic: insights from vesicle recycling in nerve terminals. Proc Natl Acad Sci U S A (2004) 2.61
Isolation of spermatozoa with low levels of fragmented DNA with the use of flow cytometry and sorting. Fertil Steril (2013) 2.60
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Comparison of human chromosome 21 conserved nongenic sequences (CNGs) with the mouse and dog genomes shows that their selective constraint is independent of their genic environment. Genome Res (2004) 2.58
Amyloid beta -peptide inhibition of the PKA/CREB pathway and long-term potentiation: reversibility by drugs that enhance cAMP signaling. Proc Natl Acad Sci U S A (2002) 2.57
Mechanisms of membrane deformation. Curr Opin Cell Biol (2003) 2.57
Meiotic and epigenetic defects in Dnmt3L-knockout mouse spermatogenesis. Proc Natl Acad Sci U S A (2005) 2.56
Retinal degeneration 12 (rd12): a new, spontaneously arising mouse model for human Leber congenital amaurosis (LCA). Mol Vis (2005) 2.55
C. elegans screen identifies autophagy genes specific to multicellular organisms. Cell (2010) 2.50
Enhancement to the RANKPEP resource for the prediction of peptide binding to MHC molecules using profiles. Immunogenetics (2004) 2.49
Cell biology of the presynaptic terminal. Annu Rev Neurosci (2003) 2.48