8 research outputs found
Characterization of HNRNPA1 mutations defines diversity in pathogenic mechanisms and clinical presentation
- Author
- Publication venue
- 'American Society for Clinical Investigation'
- Publication date
- 22/07/2021
- Field of study
Mutations in HNRNPA1 encoding heterogeneous nuclear ribonucleoprotein (hnRNP) A1 are a rare cause of amyotrophic lateral sclerosis (ALS) and multisystem prate inopathy (MSP). hnRNPA1 is part of the group of RNA-binding proteins (RBPs) that assemble with RNA to form RNPs. hnRNPs are concentrated in the nucleus and function in pre-mRNA splicing, mRNA stability, and the regulation of transcription and translation. During stress, hnRNPs, mRNA, and other RBPs condense in the cytoplasm to form stress granules (SGs). SGs are implicated in the pathogenesis of (neuro-)degenerative diseases, including ALS and inclusion body myopathy (IBM). Mutations in RBPs that affect SG biology, including FUS, TOP-43, hnRNPA1, hnRNPA2B1, and TIA1, underlie ALS, IBM, and other neurodegenerative diseases. Here, we characterize 4 potentially novel HNRNPA1 mutations (yielding 3 protein variants: *321Eext*6, *321Qext*6, and G304Nfs*3) and 2 known HNRNPA1 mutations (P288A and D262V), previously connected to ALS and MSP, in a broad spectrum of patients with hereditary motor neuropathy, ALS, and myopathy. We establish that the mutations can have different effects on hnRNPA1 fibrillization, liquid-liquid phase separation, and SG dynamics. P288A accelerated fibrillization and decelerated SG disassembly, whereas *321Eext*6 had no effect on fibrillization but decelerated SG disassembly. By contrast, G3D4Nfs*3 decelerated fibrillization and impaired liquid phase separation. Our findings suggest different underlying pathomechanisms for HNRNPA1 mutations with a possible link to clinical phenotypes.Functional Genomics of Muscle, Nerve and Brain Disorder
The Functional Consequences of Dystrophin Deficiency in Skeletal Muscles
- Author
- A. Aartsma-Rus
- A. Goyenvalle
- A. Luca De
- A. Luca De
- A. Takagi
- A.A. Hack
- A.A. Hack
- A.E. Deconinck
- A.E. Deconinck
- A.E.H. Emery
- A.J. Essen van
- A.J. Franco-ObregĂłn
- B. Boland
- B. Boland
- B. Fraysse
- B. Kohn
- B.A. Valentine
- B.G. Rosser
- C. Boesch
- C. Coirault
- C. Cornu
- C. Verellen-Dumoulin
- C. Webster
- C. Webster
- C.D. Balnave
- C.D. Balnave
- C.D. Balnave
- C.E. Woods
- C.G. Carlson
- C.G. Carlson
- C.G. Carlson
- C.W. Heizmann
- D. Bansal
- D. Kipling
- D.E. Goll
- D.J. Blake
- D.J. Burkin
- D.J. Wells
- F. Backer De
- F. Fougerousse
- F.W. Hopf
- G. Bulfield
- G. Karpati
- G. Karpati
- G. Maréchal
- G. Scheuerbrandt
- G.B.A. Duchenne
- G.C. McCarter
- G.D. Thomas
- G.R. Coulton
- G.T. Carter
- G.T. Carter
- H.H. Stedman
- I.N. Rybakova
- I.N. Rybakova
- J. Lagrota-Candido
- J. Tinsley
- J.A. Granchelli
- J.A. Rafael
- J.B. Bodensteiner
- J.E. Brenman
- J.E. Remmers
- J.F. Dunn
- J.G. Tidball
- J.L. Carpenter
- J.M. Alderton
- J.M. Boer
- J.M. Gillis
- J.M. Gillis
- J.M. Gillis
- J.M. Raymackers
- J.M. Raymackers
- J.X. DiMario
- K. Kometani
- K. Matsumara
- K. Rossini
- K. Rouger
- K.J. Bockhold
- K.S. Lau
- M. Bakay
- M. Hill
- M. Kinali
- M. Louis
- M. Sandri
- M. Vainzof
- M. Vainzof
- M. Wehling
- M.E. Kargacin
- M.J. Spencer
- M.J. Spencer
- M.J. Spencer
- M.J. Spenser
- M.V. Chakravarthy
- N. Deconinck
- N. Deconinck
- N. Deconinck
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- N. Dourdin
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- N. Mallouk
- N. Mallouk
- O. Tutdibi
- P. Cottin
- P. Gailly
- P. Gailly
- P. Moens
- P. Sicinski
- P.R. Turner
- Q.L. Lu
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- R.J. Huxtable
- R.J. Ragusa
- R.L. Nussbaum
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- S. Nicole
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- S.I. Head
- S.I. Head
- S.T. Appleyard
- T.S. Khurana
- T.T. Hou
- T.W. Balon
- V. Decostre
- Y. Mizumo
- Z. Argov
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/01/2007
- Field of study
Propensity for Participative DecisionâMaking, Job Satisfaction, Organizational Commitment, Organizational Citizenship Behavior, and Intentions to Leave Among Egyptian Managers
- Author
- Akande A.
- Akel A.M.
- Argyris C.
- Arvey R.D.
- Atiyyah H.S.
- Begley T.M.
- Black J.S.
- Cassar V.
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- Gibson C.B.
- Golembiewski R.T.
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- Griffin R.W.
- Hofstede G.
- Johnston W.B.
- Kluckhorn C.
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- Sagie A.
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- Steinberg D.I.
- Tannenbaum A.S.
- Van Dyne L.
- Wagner J.A.
- Warr P.B.
- Publication venue
- 'Emerald'
- Publication date
- Field of study
The Influences of Ethical Leader and Ethics Management on Employees's Organizational Citizenship Behavior: Focused on the Mediating Role of Ethical Climate.
- Author
- Babin B. J
- Barnett T
- Barnett T
- Brief A. P
- Brown M. E
- Brown M. E
- Carr J. Z
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- Podsakoff P. M
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- Podsakoff P. M
- Podsakoff P. M
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- Rosenblatt Z
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- Schwepker Jr
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- Trevino L.K
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- Vitell S. J
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- Wimbush J. C
- Wimbush J. C
- ê¶ëłŽêČœ
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- ìĄìí
- ì ìžì
- Publication venue
- 'Daehan Academy of Management Information Systems'
- Publication date
- Field of study
Customer Reactions to Conflict Management: A Review and Empirical Evidence from Two Service Industries
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- Adams J.S.
- Agarwal J.
- Amason A.C.
- Anderson E.W.
- Anderson J.C.
- Anderson W.D.
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- Chu P.
- Cranage D.
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- Malhotra N.K.
- Marchand D.
- Matanda M.J.
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- Mattila A.S.
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- Oliver R.L.
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- Schweikhart S.B.
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- Publication venue
- 'Emerald'
- Publication date
- Field of study
In Silico Assessment of ADME Properties: Advances in Caco-2 Cell Monolayer Permeability Modeling
- Author
- Adson A.
- Ahmed S.S.S.J.
- Alex A.
- Amidon G.L.
- Artursson P.
- Artursson P.
- Artursson P.
- Audus K.L.
- Bakhtiyor Rasulev
- Balimane P.V.
- Barry P.
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- Bittermann K.
- Cabrera-Perez M.A.
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- Cabrera-PĂ©rez M.Ă.
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- Miguel Ă. Cabrera-PĂ©rez
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- Wu C-Y.
- Yamashita F.
- Yamashita F.
- Yang M.
- Yazdanian M.
- Yee S.
- Publication venue
- 'Bentham Science Publishers Ltd.'
- Publication date
- Field of study
Virtual Screening Meets Deep Learning
- Author
- Abadi M.
- Ain Q.U.
- Aliper A.
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- Xu Y.
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- Yuan W.
- Zhang Q.
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- Zilian D.
- Publication venue
- 'Bentham Science Publishers Ltd.'
- Publication date
- Field of study
2D and 3D finite element meshing and remeshing
- Author
- Aftosmis M.J.
- Ahmad H.
- Ait-Sadi R.
- Al-Obaid Y.F.
- Al-Obaid Y.F.
- Alliez P.
- Almeida C.A.
- Amenta N.
- Aminpour M.A.
- Aminpour M.A.
- Aminpour M.A.
- Aptukov V.N.
- Armstrong C.G.
- Armstrong C.G.
- Armstrong C.G.
- Armstrong C.G.
- Armstrong C.G.
- Armstrong C.G.
- Askes H.
- Atanassov K.T.
- Aubry D.
- Bahreininejad A.
- Bai B.D.
- Bajaj C.L.
- Bajaj C.L.
- Bajaj C.L.
- Baker T.J.
- Baker T.J.
- Baker T.J.
- Baker T.J.
- Baker T.J.
- Baker T.J.
- Banicescu I.
- Bank R.
- Barata Marques M.
- Barbosa E.
- Barnard S.T.
- Barnard S.T.
- Barnard S.T.
- Basaran C.
- Bathe K.J.
- Bayne L.B.
- Beckers P.
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- Bedewi N.E.
- Belegundu A.D.
- Belegundu A.D.
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- Benzley S.
- Benzley S.E.
- Benzley S.E.
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- Bern M.
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- Bern M.
- Bern M.
- Bern M.
- Bern M.
- Bern M.W.
- Bernardi C.
- Bhavsar S.
- Bibel G.D.
- Bicanic N.
- Bicanic N.
- Biswas R.
- Biswas R.
- Blacker T.
- Blacker T.D.
- Blacker T.D.
- Blacker T.D.
- Boender E.
- Bohn C.A.
- Borouchaki H.
- Borouchaki H.
- Borouchaki H.
- Borouchaki H.
- Borouchaki H.
- Borouchaki H.
- Bossen F.J.
- Botkin M.E.
- Bouhmala N.
- Bouhmala N.
- Bradley K.J.
- Briere
- Briere
- Brown A.R.
- Brown J.M.
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- Bugeda G.
- Bui T.D.
- Buratynski E.K.
- Buratynski E.K.
- Burghardt M.
- Calvo N.A.
- Canann S.A.
- Canann S.A.
- Canann S.A.
- Canann S.A.
- Canann S.A.
- Canann S.A.
- Canann S.A.
- Canann S.A.
- Canann S.A.
- Cao J.
- Cardew G.E.
- Carey G.F.
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- Publication venue
- 'Emerald'
- Publication date
- Field of study