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Isoform-Specific Reduction of the Basic Helix-Loop-Helix Transcription Factor TCF4 Levels in Huntington’s Disease.
- Published in:
- eNeuro, 2021, v. 8, n. 5, p. 1, doi. 10.1523/ENEURO.0197-21.2021
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- Publication type:
- Article
Potency of Human Cardiosphere-Derived Cells from Patients with Ischemic Heart Disease Is Associated with Robust Vascular Supportive Ability.
- Published in:
- Stem Cells Translational Medicine, 2017, v. 6, n. 5, p. 1399, doi. 10.1002/sctm.16-0229
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- Publication type:
- Article
Phenotypic spectrum associated with mutations in the fukutin-related protein gene.
- Published in:
- Annals of Neurology, 2003, v. 53, n. 4, p. 537
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- Publication type:
- Article
Myoclonus dystonia and muscular dystrophy: ɛ-sarcoglycan is part of the dystrophin-associated protein complex in brain.
- Published in:
- 2016
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- Publication type:
- journal article
Adeno-associated Virus 9 Mediated FKRP Gene Therapy Restores Functional Glycosylation of α-dystroglycan and Improves Muscle Functions.
- Published in:
- Molecular Therapy, 2013, v. 21, n. 10, p. 1832, doi. 10.1038/mt.2013.156
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- Publication type:
- Article
Acetylcholine receptors are required for agrin‐induced clustering of postsynaptic proteins.
- Published in:
- EMBO Journal, 2001, v. 20, n. 24, p. 7060, doi. 10.1093/emboj/20.24.7060
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- Publication type:
- Article
Acetylcholine receptors are required for agrin-induced clustering of postsynaptic proteins.
- Published in:
- EMBO Journal, 2001, v. 20, n. 24, p. 7060, doi. 10.1093/emboj/20.24.7060
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- Publication type:
- Article
CMYA5 is a novel interaction partner of FHL2 in cardiac myocytes.
- Published in:
- FEBS Journal, 2022, v. 289, n. 15, p. 4622, doi. 10.1111/febs.16402
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- Publication type:
- Article
C9orf72 ablation in mice does not cause motor neuron degeneration or motor deficits.
- Published in:
- Annals of Neurology, 2015, v. 78, n. 3, p. 426, doi. 10.1002/ana.24453
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- Publication type:
- Article
Utrophin: A Structural and Functional Comparison to Dystrophin.
- Published in:
- Brain Pathology, 1996, v. 6, n. 1, p. 37, doi. 10.1111/j.1750-3639.1996.tb00781.x
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- Publication type:
- Article
Transcriptional programs regulating neuronal differentiation are disrupted in DLG2 knockout human embryonic stem cells and enriched for schizophrenia and related disorders risk variants.
- Published in:
- Nature Communications, 2022, v. 13, n. 1, p. 1, doi. 10.1038/s41467-021-27601-0
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- Publication type:
- Article
Dystroglycan mRNA expression during normal and mdx mouse embryogenesis: A comparison with utrophin and the apo-dystrophins.
- Published in:
- Developmental Dynamics, 1995, v. 204, n. 2, p. 178, doi. 10.1002/aja.1002040208
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- Publication type:
- Article
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies.
- Published in:
- Human Molecular Genetics, 2010, v. 19, n. 20, p. 3995, doi. 10.1093/hmg/ddq314
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- Publication type:
- Article
Dysbindin-1 in dorsolateral prefrontal cortex of schizophrenia cases is reduced in an isoform-specific manner unrelated to dysbindin-1 mRNA expression.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 20, p. 3851, doi. 10.1093/hmg/ddp329
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- Publication type:
- Article
TRIM32 is an E3 ubiquitin ligase for dysbindin.
- Published in:
- Human Molecular Genetics, 2009, v. 18, n. 13, p. 2344, doi. 10.1093/hmg/ddp167
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- Publication type:
- Article
SGCE missense mutations that cause myoclonus-dystonia syndrome impair ɛ-sarcoglycan trafficking to the plasma membrane: modulation by ubiquitination and torsinA.
- Published in:
- Human Molecular Genetics, 2007, v. 16, n. 3, p. 327, doi. 10.1093/hmg/ddl472
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- Publication type:
- Article
Dysbindin-1 is a synaptic and microtubular protein that binds brain snapin.
- Published in:
- Human Molecular Genetics, 2006, v. 15, n. 20, p. 3041, doi. 10.1093/hmg/ddl246
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- Publication type:
- Article
Knockdown of Human <i>TCF4</i> Affects Multiple Signaling Pathways Involved in Cell Survival, Epithelial to Mesenchymal Transition and Neuronal Differentiation.
- Published in:
- PLoS ONE, 2013, v. 8, n. 8, p. 1, doi. 10.1371/journal.pone.0073169
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- Publication type:
- Article
Synaptic Dysbindin-1 Reductions in Schizophrenia Occur in an Isoform-Specific Manner Indicating Their Subsynaptic Location.
- Published in:
- PLoS ONE, 2011, v. 6, n. 3, p. 1, doi. 10.1371/journal.pone.0016886
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- Publication type:
- Article
Proteomic investigation of the Alzheimer's risk gene MEF2C in microglial like cells.
- Published in:
- Alzheimer's & Dementia: The Journal of the Alzheimer's Association, 2021, v. 17, n. 3, p. 1, doi. 10.1002/alz.050631
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- Publication type:
- Article
Hermansky-Pudlak syndrome type 7 (HPS-7) results from mutant dysbindin, a member of the biogenesis of lysosome-related organelles complex 1 (BLOC-1).
- Published in:
- Nature Genetics, 2003, v. 35, n. 1, p. 84, doi. 10.1038/ng1229
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- Publication type:
- Article
Molecular Analysis of Duchenne Muscular Dystrophy: Past, Present, and Future<sup>a</sup>.
- Published in:
- Annals of the New York Academy of Sciences, 1995, v. 758, n. 1, p. 287, doi. 10.1111/j.1749-6632.1995.tb24834.x
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- Publication type:
- Article
Fukutin-related protein mutations that cause congenital muscular dystrophy result in ER-retention of the mutant protein in cultured cells.
- Published in:
- Human Molecular Genetics, 2005, v. 14, n. 2, p. 295, doi. 10.1093/hmg/ddi026
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- Publication type:
- Article
Functional requirements for fukutin-related protein in the Golgi apparatus.
- Published in:
- Human Molecular Genetics, 2002, v. 11, n. 26, p. 3319, doi. 10.1093/hmg/11.26.3319
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- Publication type:
- Article
Dystrobrevin Deficiency at the Sarcolemma of Patients with Muscular Dystrophy.
- Published in:
- Human Molecular Genetics, 1997, v. 6, n. 7, p. 1185, doi. 10.1093/hmg/6.7.1185
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- Publication type:
- Article
ATRX Encodes a Novel Member of the SNF2 Family of Proteins: Mutations Point to a Common Mechanism Underlying the ATR-X Syndrome.
- Published in:
- Human Molecular Genetics, 1996, v. 5, n. 12, p. 1899, doi. 10.1093/hmg/5.12.1899
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- Publication type:
- Article
The utrophin and dystrophin genes share similarities in genomic structure.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 11, p. 1765
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- Publication type:
- Article
Apo-dystrophin-3: a 2.2kb transcript from the DMD locus encoding the dystrophin glycoprotein binding site.
- Published in:
- Human Molecular Genetics, 1993, v. 2, n. 5, p. 521
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- Publication type:
- Article
Characterization of a 4.8kb transcript from the Duchenne muscular dystrophy locus expressed in Schwannoma cells.
- Published in:
- Human Molecular Genetics, 1992, v. 1, n. 2, p. 103
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- Publication type:
- Article
Dystrophin and beta-dystroglycan in photoreceptor terminals from normal and mdx[sup 3Cv] mouse retinae.
- Published in:
- European Journal of Neuroscience, 1999, v. 11, n. 6, p. 2121, doi. 10.1046/j.1460-9568.1999.00636.x
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- Publication type:
- Article
Functional analysis of TCF4 missense mutations that cause Pitt-Hopkins syndrome.
- Published in:
- Human Mutation, 2012, v. 33, n. 12, p. 1676, doi. 10.1002/humu.22160
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- Publication type:
- Article
A gain-of-glycosylation mutation associated with myoclonus-dystonia syndrome affects trafficking and processing of mouse ε-sarcoglycan in the late secretory pathway.
- Published in:
- Human Mutation, 2011, v. 32, n. 11, p. 1246, doi. 10.1002/humu.21561
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- Publication type:
- Article
Intragenic deletion of TRIM32 in compound heterozygotes with sarcotubular myopathy/LGMD2H.
- Published in:
- Human Mutation, 2009, v. 30, n. 9, p. E831, doi. 10.1002/humu.21063
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- Publication type:
- Article
Misfolding of fukutin-related protein (FKRP) variants in congenital and limb girdle muscular dystrophies.
- Published in:
- Frontiers in Molecular Biosciences, 2023, p. 1, doi. 10.3389/fmolb.2023.1279700
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- Publication type:
- Article
The effects of post-translational processing on dystroglycan synthesis and trafficking<sup>1</sup><FN ID="FN1"><NO>1</NO>EMBL accession number AJ584830.</FN>
- Published in:
- FEBS Letters, 2003, v. 555, n. 2, p. 209, doi. 10.1016/S0014-5793(03)01230-4
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- Publication type:
- Article
Abnormal Dysbindin Expression in Cerebellar Mossy Fiber Synapses in the mdx Mouse Model of Duchenne Muscular Dystrophy.
- Published in:
- Journal of Neuroscience, 2003, v. 23, n. 16, p. 6576, doi. 10.1523/JNEUROSCI.23-16-06576.2003
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- Publication type:
- Article
Dysbindin-1 is reduced in intrinsic, glutamatergic terminals of the hippocampal formation in schizophrenia.
- Published in:
- Journal of Clinical Investigation, 2004, v. 113, n. 9, p. 1353, doi. 10.1172/JCI200420425
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- Publication type:
- Article
Psychiatric disorders, myoclonus dystonia, and the epsilon-sarcoglycan gene: A systematic review.
- Published in:
- Movement Disorders, 2011, v. 26, n. 10, p. 1939, doi. 10.1002/mds.23791
- By:
- Publication type:
- Article
Inducible over-expression and siRNA mediated knock-down of the schizophrenia susceptibility gene ZNF804A: Detection of altered gene expression and splicing using whole genome exon arrays
- Published in:
- 2012
- By:
- Publication type:
- Abstract
Faithful SGCE imprinting in iPSC-derived cortical neurons: an endogenous cellular model of myoclonus-dystonia.
- Published in:
- Scientific Reports, 2017, p. 41156, doi. 10.1038/srep41156
- By:
- Publication type:
- Article
Fukutin-related protein localizes to the Golgi apparatus and mutations lead to mislocalization in muscle in vivo.
- Published in:
- Muscle & Nerve, 2007, v. 36, n. 4, p. 455, doi. 10.1002/mus.20833
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- Publication type:
- Article
Convergent Evidence That ZNF804A Is a Regulator of Pre-messenger RNA Processing and Gene Expression.
- Published in:
- Schizophrenia Bulletin, 2019, v. 45, n. 6, p. 1267, doi. 10.1093/schbul/sby183
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- Publication type:
- Article
The Psychiatric Risk Gene Transcription Factor 4 (TCF4) Regulates Neurodevelopmental Pathways Associated With Schizophrenia, Autism, and Intellectual Disability.
- Published in:
- Schizophrenia Bulletin, 2018, v. 44, n. 5, p. 1100, doi. 10.1093/schbul/sbx164
- By:
- Publication type:
- Article
TCF4, Schizophrenia, and Pitt-Hopkins Syndrome.
- Published in:
- Schizophrenia Bulletin, 2010, v. 36, n. 3, p. 443, doi. 10.1093/schbul/sbq035
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- Publication type:
- Article