Feil Family Brain & Mind Research Institute

Publications

Found 12 results
Author Title Type [ Year(Asc)]
Filters: Keyword is Mutation  [Clear All Filters]
2024
Theofilas P, Wang C, Butler D, Morales DO, Petersen C, Ambrose A, Chin B, Yang T, Khan S, Ng R et al..  2024.  iPSC-induced neurons with the V337M MAPT mutation are selectively vulnerable to caspase-mediated cleavage of tau and apoptotic cell death.. Mol Cell Neurosci. 130:103954.
Qu W, Lam M, McInvale JJ, Mares JA, Kwon S, Humala N, Mahajan A, Nguyen T, Jakubiak KA, Mun J-Y et al..  2024.  Xenografted human iPSC-derived neurons with the familial Alzheimer's disease APPV717I mutation reveal dysregulated transcriptome signatures linked to synaptic function and implicate LINGO2 as a disease signaling mediator.. Acta Neuropathol. 147(1):107.
2023
Li J, Jaiswal MK, Chien J-F, Kozlenkov A, Jung J, Zhou P, Gardashli M, Pregent LJ, Engelberg-Cook E, Dickson DW et al..  2023.  Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation.. Nat Commun. 14(1):5714.
Crane-Smith Z, De Castro SCP, Nikolopoulou E, Wolujewicz P, Smedley D, Lei Y, Mather E, Santos C, Hopkinson M, Pitsillides AA et al..  2023.  A non-coding insertional mutation of Grhl2 causes gene over-expression and multiple structural anomalies including cleft palate, spina bifida and encephalocele.. Hum Mol Genet. 32(17):2681-2692.
2017
Jain D, Meydan C, Lange J, Bouuaert CClaeys, Lailler N, Mason CE, Anderson KV, Keeney S.  2017.  rahu is a mutant allele of Dnmt3c, encoding a DNA methyltransferase homolog required for meiosis and transposon repression in the mouse male germline.. PLoS Genet. 13(8):e1006964.
2016
Maduro V, Pusey BN, Cherukuri PF, Atkins P, Souich Cdu, Rupps R, Limbos M, Adams DR, Bhatt SS, Eydoux P et al..  2016.  Complex translocation disrupting TCF4 and altering TCF4 isoform expression segregates as mild autosomal dominant intellectual disability.. Orphanet J Rare Dis. 11(1):62.
Lee AS, De Jesús-Cortés H, Kabir ZD, Knobbe W, Orr M, Burgdorf C, Huntington P, McDaniel L, Britt JK, Hoffmann F et al..  2016.  The Neuropsychiatric Disease-Associated Gene cacna1c Mediates Survival of Young Hippocampal Neurons.. eNeuro. 3(2)
Chung SYoung, Kishinevsky S, Mazzulli JR, Graziotto J, Mrejeru A, Mosharov EV, Puspita L, Valiulahi P, Sulzer D, Milner TA et al..  2016.  Parkin and PINK1 Patient iPSC-Derived Midbrain Dopamine Neurons Exhibit Mitochondrial Dysfunction and α-Synuclein Accumulation.. Stem Cell Reports. 7(4):664-677.
Yuan P, Condello C, C Keene D, Wang Y, Bird TD, Paul SM, Luo W, Colonna M, Baddeley D, Grutzendler J.  2016.  TREM2 Haplodeficiency in Mice and Humans Impairs the Microglia Barrier Function Leading to Decreased Amyloid Compaction and Severe Axonal Dystrophy.. Neuron. 90(4):724-39.
Liu W, Zhao L, Blackman B, Parmar M, Wong MYing, Woo T, Yu F, Chiuchiolo MJ, Sondhi D, Kaminsky SM et al..  2016.  Vectored Intracerebral Immunization with the Anti-Tau Monoclonal Antibody PHF1 Markedly Reduces Tau Pathology in Mutant Tau Transgenic Mice.. J Neurosci. 36(49):12425-12435.
2014
Ishii M, Wang G, Racchumi G, Dyke JP, Iadecola C.  2014.  Transgenic mice overexpressing amyloid precursor protein exhibit early metabolic deficits and a pathologically low leptin state associated with hypothalamic dysfunction in arcuate neuropeptide Y neurons.. J Neurosci. 34(27):9096-106.
Choi MSik, Nakamura T, Cho S-J, Han X, Holland EA, Qu J, Petsko GA, Yates JR, Liddington RC, Lipton SA.  2014.  Transnitrosylation from DJ-1 to PTEN attenuates neuronal cell death in parkinson's disease models.. J Neurosci. 34(45):15123-31.