Kellen Winden

Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders. Curr Opin Neurobiol. 2024 Nov 28; 90:102934. View Construction destruction: Contribution of dyregulated proteostasis to neurodevelopmental disorders. Abstract

High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. Nat Commun. 2024 Jan 17; 15(1):584. View High-content screening identifies a small molecule that restores AP-4-dependent protein trafficking in neuronal models of AP-4-associated hereditary spastic paraplegia. Abstract

ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Neurobiol Dis. 2024 Jan; 190:106386. View ALDH5A1-deficient iPSC-derived excitatory and inhibitory neurons display cell type specific alterations. Abstract

Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex. Cell Rep. 2023 08 29; 42(8):112838. View Increased degradation of FMRP contributes to neuronal hyperexcitability in tuberous sclerosis complex. Abstract

High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia. Res Sq. 2023 Jun 12. View High-Content Small Molecule Screen Identifies a Novel Compound That Restores AP-4-Dependent Protein Trafficking in Neuronal Models of AP-4-Associated Hereditary Spastic Paraplegia. Abstract

16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons. Front Psychiatry. 2022; 13:924956. View 16p13.11 deletion variants associated with neuropsychiatric disorders cause morphological and synaptic changes in induced pluripotent stem cell-derived neurons. Abstract

Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates. Bio Protoc. 2022 May 05; 12(9):e4407. View Translating Ribosome Affinity Purification (TRAP) of Cell Type-specific mRNA from Mouse Brain Lysates. Abstract

Arthritis flares mediated by tissue-resident memory T cells in the joint. Cell Rep. 2021 10 26; 37(4):109902. View Arthritis flares mediated by tissue-resident memory T cells in the joint. Abstract

Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts. Elife. 2021 07 14; 10. View Loss of Tsc1 in cerebellar Purkinje cells induces transcriptional and translation changes in FMRP target transcripts. Abstract

16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Nat Commun. 2021 05 18; 12(1):2897. View 16p11.2 deletion is associated with hyperactivation of human iPSC-derived dopaminergic neuron networks and is rescued by RHOA inhibition in vitro. Abstract

Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279. View Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Abstract

Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia. Cell Rep. 2020 06 23; 31(12):107780. View Phenotypic Screen with TSC-Deficient Neurons Reveals Heat-Shock Machinery as a Druggable Pathway for mTORC1 and Reduced Cilia. Abstract

Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons. J Neurosci. 2019 11 20; 39(47):9294-9305. View Biallelic Mutations in TSC2 Lead to Abnormalities Associated with Cortical Tubers in Human iPSC-Derived Neurons. Abstract

Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin. Mol Psychiatry. 2018 11; 23(11):2167-2183. View Purkinje cells derived from TSC patients display hypoexcitability and synaptic deficits associated with reduced FMRP levels and reversed by rapamycin. Abstract

Abnormal mTOR Activation in Autism. Annu Rev Neurosci. 2018 07 08; 41:1-23. View Abnormal mTOR Activation in Autism. Abstract

Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex. J Exp Med. 2017 03 06; 214(3):681-697. View Neuronal CTGF/CCN2 negatively regulates myelination in a mouse model of tuberous sclerosis complex. Abstract

Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy. Hum Mol Genet. 2016 06 01; 25(11):2168-2181. View Cell-type-specific miR-431 dysregulation in a motor neuron model of spinal muscular atrophy. Abstract

Megalencephaly and Macrocephaly. Semin Neurol. 2015 Jun; 35(3):277-87. View Megalencephaly and Macrocephaly. Abstract

Molecular alterations in areas generating fast ripples in an animal model of temporal lobe epilepsy. Neurobiol Dis. 2015 Jun; 78:35-44. View Molecular alterations in areas generating fast ripples in an animal model of temporal lobe epilepsy. Abstract

Stroke in primary hyperoxaluria type I. J Neuroimaging. 2014 Jul-Aug; 24(4):411-3. View Stroke in primary hyperoxaluria type I. Abstract

Human-specific transcriptional networks in the brain. Neuron. 2012 Aug 23; 75(4):601-17. View Human-specific transcriptional networks in the brain. Abstract

Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Cell. 2011 Sep 30; 147(1):235-46. View Absence of CNTNAP2 leads to epilepsy, neuronal migration abnormalities, and core autism-related deficits. Abstract

Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signaling. Neuron. 2011 Sep 22; 71(6):1030-42. View Functional genomic analyses identify pathways dysregulated by progranulin deficiency, implicating Wnt signaling. Abstract

Substrate sequence influences ?-secretase modulator activity, role of the transmembrane domain of the amyloid precursor protein. J Biol Chem. 2011 Nov 18; 286(46):39794-803. View Substrate sequence influences ?-secretase modulator activity, role of the transmembrane domain of the amyloid precursor protein. Abstract

CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Mol Psychiatry. 2012 Jan; 17(1):4-7. View CCDC22: a novel candidate gene for syndromic X-linked intellectual disability. Abstract

A systems level, functional genomics analysis of chronic epilepsy. PLoS One. 2011; 6(6):e20763. View A systems level, functional genomics analysis of chronic epilepsy. Abstract

Human-specific transcriptional regulation of CNS development genes by FOXP2. Nature. 2009 Nov 12; 462(7270):213-7. View Human-specific transcriptional regulation of CNS development genes by FOXP2. Abstract

The organization of the transcriptional network in specific neuronal classes. Mol Syst Biol. 2009; 5:291. View The organization of the transcriptional network in specific neuronal classes. Abstract

A step-by-step approach to choosing an information system. Provider. 1990 Jan; 16(1):35-8. View A step-by-step approach to choosing an information system. Abstract