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Protein kinase CK2 modulates HSJ1 function through phosphorylation of the UIM2 domain. [electronic resource] by
- Ottaviani, Daniele
- Marin, Oriano
- Arrigoni, Giorgio
- Franchin, Cinzia
- Vilardell, Jordi
- Sandre, Michele
- Li, Wenwen
- Parfitt, David A
- Pinna, Lorenzo A
- Cheetham, Michael E
- Ruzzene, Maria
Producer: 20170915
In:
Human molecular genetics vol. 26
Availability: No items available.
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7.
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AAV-mediated ERdj5 overexpression protects against P23H rhodopsin toxicity. [electronic resource] by
- Aguilà, Monica
- Bellingham, James
- Athanasiou, Dimitra
- Bevilacqua, Dalila
- Duran, Yanai
- Maswood, Ryea
- Parfitt, David A
- Iwawaki, Takao
- Spyrou, Giannis
- Smith, Alexander J
- Ali, Robin R
- Cheetham, Michael E
Producer: 20210806
In:
Human molecular genetics vol. 29
Availability: No items available.
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8.
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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. [electronic resource] by
- Schwarz, Nele
- Lane, Amelia
- Jovanovic, Katarina
- Parfitt, David A
- Aguila, Monica
- Thompson, Clare L
- da Cruz, Lyndon
- Coffey, Peter J
- Chapple, J Paul
- Hardcastle, Alison J
- Cheetham, Michael E
Publication details: Human molecular genetics 09 2017
In:
Human molecular genetics vol. 26
Availability: No items available.
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9.
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Arl3 and RP2 regulate the trafficking of ciliary tip kinesins. [electronic resource] by
- Schwarz, Nele
- Lane, Amelia
- Jovanovic, Katarina
- Parfitt, David A
- Aguila, Monica
- Thompson, Clare L
- da Cruz, Lyndon
- Coffey, Peter J
- Chapple, J Paul
- Hardcastle, Alison J
- Cheetham, Michael E
Producer: 20171031
In:
Human molecular genetics vol. 26
Availability: No items available.
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10.
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The ataxia protein sacsin is a functional co-chaperone that protects against polyglutamine-expanded ataxin-1. [electronic resource] by
- Parfitt, David A
- Michael, Gregory J
- Vermeulen, Esmeralda G M
- Prodromou, Natalia V
- Webb, Tom R
- Gallo, Jean-Marc
- Cheetham, Michael E
- Nicoll, William S
- Blatch, Gregory L
- Chapple, J Paul
Producer: 20090714
In:
Human molecular genetics vol. 18
Availability: No items available.
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11.
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REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking. [electronic resource] by
- Agrawal, Smriti A
- Burgoyne, Thomas
- Eblimit, Aiden
- Bellingham, James
- Parfitt, David A
- Lane, Amelia
- Nichols, Ralph
- Asomugha, Chinwe
- Hayes, Matthew J
- Munro, Peter M
- Xu, Mingchu
- Wang, Keqing
- Futter, Clare E
- Li, Yumei
- Chen, Rui
- Cheetham, Michael E
Producer: 20180111
In:
Human molecular genetics vol. 26
Availability: No items available.
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12.
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Deep intronic mutation in OFD1, identified by targeted genomic next-generation sequencing, causes a severe form of X-linked retinitis pigmentosa (RP23). [electronic resource] by
- Webb, Tom R
- Parfitt, David A
- Gardner, Jessica C
- Martinez, Ariadna
- Bevilacqua, Dalila
- Davidson, Alice E
- Zito, Ilaria
- Thiselton, Dawn L
- Ressa, Jacob H C
- Apergi, Marina
- Schwarz, Nele
- Kanuga, Naheed
- Michaelides, Michel
- Cheetham, Michael E
- Gorin, Michael B
- Hardcastle, Alison J
Producer: 20130206
In:
Human molecular genetics vol. 21
Availability: No items available.
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13.
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Mitochondrial dysfunction and Purkinje cell loss in autosomal recessive spastic ataxia of Charlevoix-Saguenay (ARSACS). [electronic resource] by
- Girard, Martine
- Larivière, Roxanne
- Parfitt, David A
- Deane, Emily C
- Gaudet, Rebecca
- Nossova, Nadya
- Blondeau, Francois
- Prenosil, George
- Vermeulen, Esmeralda G M
- Duchen, Michael R
- Richter, Andrea
- Shoubridge, Eric A
- Gehring, Kalle
- McKinney, R Anne
- Brais, Bernard
- Chapple, J Paul
- McPherson, Peter S
Producer: 20120330
In:
Proceedings of the National Academy of Sciences of the United States of America vol. 109
Availability: No items available.
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14.
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Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups. [electronic resource] by
- Parfitt, David A
- Lane, Amelia
- Ramsden, Conor M
- Carr, Amanda-Jayne F
- Munro, Peter M
- Jovanovic, Katarina
- Schwarz, Nele
- Kanuga, Naheed
- Muthiah, Manickam N
- Hull, Sarah
- Gallo, Jean-Marc
- da Cruz, Lyndon
- Moore, Anthony T
- Hardcastle, Alison J
- Coffey, Peter J
- Cheetham, Michael E
Producer: 20170719
In:
Cell stem cell vol. 18
Availability: No items available.
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15.
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Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models. [electronic resource] by
- Dulla, Kalyan
- Aguila, Monica
- Lane, Amelia
- Jovanovic, Katarina
- Parfitt, David A
- Schulkens, Iris
- Chan, Hee Lam
- Schmidt, Iris
- Beumer, Wouter
- Vorthoren, Lars
- Collin, Rob W J
- Garanto, Alejandro
- Duijkers, Lonneke
- Brugulat-Panes, Anna
- Semo, Ma'ayan
- Vugler, Anthony A
- Biasutto, Patricia
- Adamson, Peter
- Cheetham, Michael E
Publication details: Molecular therapy. Nucleic acids Sep 2018
In:
Molecular therapy. Nucleic acids vol. 12
Availability: No items available.
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16.
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Mutations in REEP6 Cause Autosomal-Recessive Retinitis Pigmentosa. [electronic resource] by
- Arno, Gavin
- Agrawal, Smriti A
- Eblimit, Aiden
- Bellingham, James
- Xu, Mingchu
- Wang, Feng
- Chakarova, Christina
- Parfitt, David A
- Lane, Amelia
- Burgoyne, Thomas
- Hull, Sarah
- Carss, Keren J
- Fiorentino, Alessia
- Hayes, Matthew J
- Munro, Peter M
- Nicols, Ralph
- Pontikos, Nikolas
- Holder, Graham E
- Asomugha, Chinwe
- Raymond, F Lucy
- Moore, Anthony T
- Plagnol, Vincent
- Michaelides, Michel
- Hardcastle, Alison J
- Li, Yumei
- Cukras, Catherine
- Webster, Andrew R
- Cheetham, Michael E
- Chen, Rui
Producer: 20170523
In:
American journal of human genetics vol. 99
Availability: No items available.
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