Search Results - "Sopher BL"

Neuromuscular junction transcriptome analysis of spinal and bulbar muscular atrophy mice implicates sarcomere gene expression and calcium flux dysregulation in disease pathogenesis.

Authors: Gromova A Cha B Nguyen N et al.

Source: Human molecular genetics [Hum Mol Genet] 2025 Jul 03; Vol. 34 (14), pp. 1238-1251.

Publication Type: Journal Article

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

MAP4K3 inhibits Sirtuin-1 to repress the LKB1-AMPK pathway to promote amino acid-dependent activation of the mTORC1 complex.

Authors: Branch MR Hsu CL Ohnishi K et al.

Source: Life science alliance [Life Sci Alliance] 2023 May 23; Vol. 6 (8). Date of Electronic Publication: 2023 May 23 (Print Publication: 2023).

Publication Type: Journal Article; Research Support, U.S. Gov't, Non-P.H.S.; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Extramural

Journal Info: Publisher: Life Science Alliance, LLC Country of Publication: United States NLM ID: 101728869 Publication Model: Electronic-Print Cited Medium: Internet ISSN: 2575-1077 (Electronic) Linking ISSN: 25751077 NLM ISO Abbreviation: Life Sci Alliance Subsets: MEDLINE

Author Correction: Selective modulation of the androgen receptor AF2 domain rescues degeneration in spinal bulbar muscular atrophy.

Authors: Badders NM Korff A Miranda HC et al.

Source: Nature medicine [Nat Med] 2024 Mar; Vol. 30 (3), pp. 909-910.

Publication Type: Published Erratum

Journal Info: Publisher: Nature Publishing Company Country of Publication: United States NLM ID: 9502015 Publication Model: Print Cited Medium: Internet ISSN: 1546-170X (Electronic) Linking ISSN: 10788956 NLM ISO Abbreviation: Nat Med Subsets: MEDLINE; PubMed not MEDLINE

4E-BP1 Protects Neurons from Misfolded Protein Stress and Parkinson's Disease Toxicity by Inducing the Mitochondrial Unfolded Protein Response.

Authors: Dastidar SG Pham MT Mitchell MB et al.

Source: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2020 Nov 04; Vol. 40 (45), pp. 8734-8745. Date of Electronic Publication: 2020 Oct 12.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

Senataxin helicase, the causal gene defect in ALS4, is a significant modifier of C9orf72 ALS G4C2 and arginine-containing dipeptide repeat toxicity.

Authors: Bennett CL Dastidar S Arnold FJ et al.

Source: Acta neuropathologica communications [Acta Neuropathol Commun] 2023 Oct 17; Vol. 11 (1), pp. 164. Date of Electronic Publication: 2023 Oct 17.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: BioMed Central Country of Publication: England NLM ID: 101610673 Publication Model: Electronic Cited Medium: Internet ISSN: 2051-5960 (Electronic) Linking ISSN: 20515960 NLM ISO Abbreviation: Acta Neuropathol Commun Subsets: MEDLINE

Neuronal susceptibility to beta-amyloid toxicity and ischemic injury involves histone deacetylase-2 regulation of endophilin-B1.

Authors: Wang DB Kinoshita C Kinoshita Y et al.

Source: Brain pathology (Zurich, Switzerland) [Brain Pathol] 2019 Mar; Vol. 29 (2), pp. 164-175. Date of Electronic Publication: 2018 Oct 05.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: International Society of Neuropathology Country of Publication: Switzerland NLM ID: 9216781 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1750-3639 (Electronic) Linking ISSN: 10156305 NLM ISO Abbreviation: Brain Pathol

Antisense oligonucleotides targeting mutant Ataxin-7 restore visual function in a mouse model of spinocerebellar ataxia type 7.

Authors: Niu C Prakash TP Kim A et al.

Source: Science translational medicine [Sci Transl Med] 2018 Oct 31; Vol. 10 (465).

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: American Association for the Advancement of Science Country of Publication: United States NLM ID: 101505086 Publication Model: Print Cited Medium: Internet ISSN: 1946-6242 (Electronic) Linking ISSN: 19466234 NLM ISO Abbreviation: Sci Transl Med Subsets: MEDLINE

Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients.

Authors: Bennett CL Dastidar SG Ling SC et al.

Source: Acta neuropathologica [Acta Neuropathol] 2018 Sep; Vol. 136 (3), pp. 425-443. Date of Electronic Publication: 2018 May 03.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0412041 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0533 (Electronic) Linking ISSN: 00016322 NLM ISO Abbreviation: Acta Neuropathol Subsets: MEDLINE

Altered H3 histone acetylation impairs high-fidelity DNA repair to promote cerebellar degeneration in spinocerebellar ataxia type 7.

Authors: Switonski PM Delaney JR Bartelt LC et al.

Source: Cell reports [Cell Rep] 2021 Nov 30; Vol. 37 (9), pp. 110062.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Cell Press Country of Publication: United States NLM ID: 101573691 Publication Model: Print Cited Medium: Internet ISSN: 2211-1247 (Electronic) NLM ISO Abbreviation: Cell Rep Subsets: MEDLINE

Proteolytic cleavage of ataxin-7 promotes SCA7 retinal degeneration and neurological dysfunction.

Authors: Guyenet SJ Mookerjee SS Lin A et al.

Source: Human molecular genetics [Hum Mol Genet] 2015 Jul 15; Vol. 24 (14), pp. 3908-17. Date of Electronic Publication: 2015 Apr 09.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Loss of endophilin-B1 exacerbates Alzheimer's disease pathology.

Authors: Wang DB Kinoshita Y Kinoshita C et al.

Source: Brain : a journal of neurology [Brain] 2015 Jul; Vol. 138 (Pt 7), pp. 2005-19. Date of Electronic Publication: 2015 May 16.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: Oxford University Press Country of Publication: England NLM ID: 0372537 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2156 (Electronic) Linking ISSN: 00068950 NLM ISO Abbreviation: Brain Subsets: MEDLINE

Polyglutamine-expanded androgen receptor interferes with TFEB to elicit autophagy defects in SBMA.

Authors: Cortes CJ Miranda HC Frankowski H et al.

Source: Nature neuroscience [Nat Neurosci] 2014 Sep; Vol. 17 (9), pp. 1180-9. Date of Electronic Publication: 2014 Aug 10.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1546-1726 (Electronic) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

Bax interacting factor-1 promotes survival and mitochondrial elongation in neurons.

Authors: Wang DB Uo T Kinoshita C et al.

Source: The Journal of neuroscience : the official journal of the Society for Neuroscience [J Neurosci] 2014 Feb 12; Vol. 34 (7), pp. 2674-83.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Society for Neuroscience Country of Publication: United States NLM ID: 8102140 Publication Model: Print Cited Medium: Internet ISSN: 1529-2401 (Electronic) Linking ISSN: 02706474 NLM ISO Abbreviation: J Neurosci Subsets: MEDLINE

Reduction of mutant ataxin-7 expression restores motor function and prevents cerebellar synaptic reorganization in a conditional mouse model of SCA7.

Authors: Furrer SA Waldherr SM Mohanachandran MS et al.

Source: Human molecular genetics [Hum Mol Genet] 2013 Mar 01; Vol. 22 (5), pp. 890-903. Date of Electronic Publication: 2012 Nov 29.

Publication Type: Journal Article; Research Support, N.I.H., Extramural

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1460-2083 (Electronic) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Tight expression regulation of senataxin, linked to motor neuron disease and ataxia, is required to avert cell-cycle block and nucleolus disassembly.

Authors: Bennett CL Sopher BL La Spada AR

Source: Heliyon [Heliyon] 2020 Jun 13; Vol. 6 (6), pp. e04165. Date of Electronic Publication: 2020 Jun 13 (Print Publication: 2020).

Publication Type: Journal Article

Journal Info: Publisher: Elsevier Ltd Country of Publication: England NLM ID: 101672560 Publication Model: eCollection Cited Medium: Print ISSN: 2405-8440 (Print) Linking ISSN: 24058440 NLM ISO Abbreviation: Heliyon Subsets: PubMed not MEDLINE

CTCF cis-regulates trinucleotide repeat instability in an epigenetic manner: a novel basis for mutational hot spot determination.

Authors: Libby RT Hagerman KA Pineda VV et al.

Source: PLoS genetics [PLoS Genet] 2008 Nov; Vol. 4 (11), pp. e1000257. Date of Electronic Publication: 2008 Nov 14.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Public Library of Science Country of Publication: United States NLM ID: 101239074 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1553-7404 (Electronic) Linking ISSN: 15537390 NLM ISO Abbreviation: PLoS Genet Subsets: MEDLINE

Beta-synuclein modulates alpha-synuclein neurotoxicity by reducing alpha-synuclein protein expression.

Authors: Fan Y Limprasert P Murray IV et al.

Source: Human molecular genetics [Hum Mol Genet] 2006 Oct 15; Vol. 15 (20), pp. 3002-11. Date of Electronic Publication: 2006 Sep 07.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

Bergmann glia expression of polyglutamine-expanded ataxin-7 produces neurodegeneration by impairing glutamate transport.

Authors: Custer SK Garden GA Gill N et al.

Source: Nature neuroscience [Nat Neurosci] 2006 Oct; Vol. 9 (10), pp. 1302-11. Date of Electronic Publication: 2006 Aug 27.

Publication Type: Comparative Study; Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Nature Publishing Group Country of Publication: United States NLM ID: 9809671 Publication Model: Print-Electronic Cited Medium: Print ISSN: 1097-6256 (Print) Linking ISSN: 10976256 NLM ISO Abbreviation: Nat Neurosci Subsets: MEDLINE

Loss of endogenous androgen receptor protein accelerates motor neuron degeneration and accentuates androgen insensitivity in a mouse model of X-linked spinal and bulbar muscular atrophy.

Authors: Thomas PS Jr Fraley GS Damian V et al.

Source: Human molecular genetics [Hum Mol Genet] 2006 Jul 15; Vol. 15 (14), pp. 2225-38. Date of Electronic Publication: 2006 Jun 13.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: IRL Press at Oxford University Press Country of Publication: England NLM ID: 9208958 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0964-6906 (Print) Linking ISSN: 09646906 NLM ISO Abbreviation: Hum Mol Genet Subsets: MEDLINE

The Purkinje cell degeneration 5J mutation is a single amino acid insertion that destabilizes Nna1 protein.

Authors: Chakrabarti L Neal JT Miles M et al.

Source: Mammalian genome : official journal of the International Mammalian Genome Society [Mamm Genome] 2006 Feb; Vol. 17 (2), pp. 103-10. Date of Electronic Publication: 2006 Feb 07.

Publication Type: Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't

Journal Info: Publisher: Springer-Verlag Country of Publication: United States NLM ID: 9100916 Publication Model: Print-Electronic Cited Medium: Print ISSN: 0938-8990 (Print) Linking ISSN: 09388990 NLM ISO Abbreviation: Mamm Genome Subsets: MEDLINE