87 research outputs found
Eight previously unidentified mutations found in the OA1 ocular albinism gene
- Author
- A Garner
- Alex V Levin
- Carolina Jaliffa
- CD Strader
- Christelle Vêtu
- Cécile Marsac
- Daniel F Schorderet
- Didier Lacombe
- Dominique Bonneau
- Dominique Marchant
- Edith Said
- Eedy Mezer
- Elise Héon
- F Vetrini
- FE O'Donnell Jr
- Francis L Munier
- Hélène Dollfus
- Hélène Mayeur
- Jean-Louis Dufier
- Joanne Sutherland
- Josseline Kaplan
- K Cortese
- K Sankaranarayanan
- L Staleva
- M d'Addio
- M Miné
- M Preising
- Marc Abitbol
- Maurice Menasche
- MT Bassi
- MT Bassi
- MV Schiaffino
- MV Schiaffino
- MV Schiaffino
- O Camand
- Olivier Roche
- RE Schnur
- Publication venue
- BioMed Central
- Publication date
- 01/01/2006
- Field of study
BACKGROUND: Ocular albinism type 1 (OA1) is an X-linked ocular disorder characterized by a severe reduction in visual acuity, nystagmus, hypopigmentation of the retinal pigmented epithelium, foveal hypoplasia, macromelanosomes in pigmented skin and eye cells, and misrouting of the optical tracts. This disease is primarily caused by mutations in the OA1 gene. METHODS: The ophthalmologic phenotype of the patients and their family members was characterized. We screened for mutations in the OA1 gene by direct sequencing of the nine PCR-amplified exons, and for genomic deletions by PCR-amplification of large DNA fragments. RESULTS: We sequenced the nine exons of the OA1 gene in 72 individuals and found ten different mutations in seven unrelated families and three sporadic cases. The ten mutations include an amino acid substitution and a premature stop codon previously reported by our team, and eight previously unidentified mutations: three amino acid substitutions, a duplication, a deletion, an insertion and two splice-site mutations. The use of a novel Taq polymerase enabled us to amplify large genomic fragments covering the OA1 gene. and to detect very likely six distinct large deletions. Furthermore, we were able to confirm that there was no deletion in twenty one patients where no mutation had been found. CONCLUSION: The identified mutations affect highly conserved amino acids, cause frameshifts or alternative splicing, thus affecting folding of the OA1 G protein coupled receptor, interactions of OA1 with its G protein and/or binding with its ligand
Expression of OA1 limits the fusion of a subset of MVBs with lysosomes; a mechanism likely involved in the initial biogenesis of melanosomes
- Publication venue
- Publication date
- 15/11/2013
- Field of study
Multivesicular endosomes/bodies (MVBs) deliver proteins like activated EGF receptors (EGFR) to the lysosome for degradation, and, in pigmented cells, MVBs containing PMEL are an initial stage in melanosome biogenesis. The mechanisms regulating numbers and fate of different populations of MVB are unclear. Here we focus on the role of the G protein coupled receptor, OA1, which is expressed exclusively in pigmented cells and mutations in which cause the most common type of ocular albinism. By exogenously expressing PMEL HeLa cells have been shown to form MVBs resembling early stage melanosomes. To focus on the role of OA1 in the initial stages of melanosome biogenesis we take advantage of the absence of the later stages of melanosome maturation in HeLa cells to determine whether OA1 activity can regulate MVB number and fate. Expression of wild type but not OA1 mutants carrying inactivating mutations/deletions causes MVB numbers to increase. Whilst OA1 expression has no effect on delivery of EGFR-containing MVBs to the lysosome it inhibits the lysosomal delivery of PMEL and PMEL-containing MVBs accumulate. We propose that OA1 activity delays delivery of PMEL-containing MVBs to the lysosome to allow time for melanin synthesis and commitment to melanosome biogenesis
The ocular albinism type 1 protein, an intracellular G protein-coupled receptor, regulates melanosome transport in pigment cells (vol 17, pg 3487, 2008)
- Author
- Publication venue
- 'Oxford University Press (OUP)'
- Publication date
- 01/01/2017
- Field of study
no abstract availabl
Fiber type composition of the human quadratus plantae muscle: a comparison of the lateral and medial heads
- Author
- A Soysa
- AI Kryger
- AM Maggs
- AW English
- B Blaauw
- B James
- Benjamin WC Rosser
- BWC Rosser
- CA Bowers
- D Neunhauserer
- D Pette
- DL Headlee
- E Gallardo
- E Morag
- EB Kaplan
- F Picquet
- F Wood Jones
- G Battaglia
- G Bello-Hellegouarch
- G Scott
- GM Stephenson
- H Nathan
- HB Menz
- II Ahmetov
- J Lexell
- JA Korfage
- JA Simoneau
- JC Stevens
- JJ Rondhuis
- JL Andersen
- JM Sions
- Kristen L Schroeder
- L Stevens
- LA Kelly
- LA Reeser
- LM Snow
- MS Hur
- MV Narici
- OJ Lewis
- P Sooriakumaran
- PR Cavanagh
- RA Meyers
- S Schiaffino
- SE Peters
- SL Rowan
- SM Hughes
- Soo Y Kim
- SY Kim
- V Dubowitz
- V Mahadevan
- V Smerdu
- YY Cheung
- Z Novakova
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Deficient nitric oxide signalling impairs skeletal muscle growth and performance: involvement of mitochondrial dysregulation
- Author
- A Wagatsuma
- AP Russell
- AV Kuznetsov
- C Armani
- C De Palma
- C De Palma
- C De Palma
- C De Palma
- C George Carlson
- C Mammucari
- C Paolucci
- C Perrotta
- C Perrotta
- C Sciorati
- C Sciorati
- CG Carlson
- CH Tengan
- CM Fader
- CM Haynes
- D Acosta-Alvear
- D Cazzato
- D Cervia
- D Deponti
- D Li
- DM Votion
- DS Bredt
- DS Chao
- DS Chao
- E Clementi
- E Clementi
- E Clementi
- E Nisoli
- E Nisoli
- G Pallafacchina
- G Samengo
- GD Thomas
- GD Thomas
- GK McConell
- HX Nguyen
- I Rubinstein
- J Wu
- JE Anderson
- JE Brenman
- JE Church
- JM Percival
- JM Percival
- JP Eu
- JS Ju
- JS Stamler
- K Gucuyener
- K Shibata
- KJ Livak
- L Bizzozero
- L Mouchiroud
- LC Gomes
- M Francolini
- M Mehrpour
- M Sandri
- M Sandri
- M Sandri
- M Sandri
- M Wehling
- M Wehling-Henricks
- MG D'Angelo
- MV Cossu
- MW Cleeter
- MW Pellegrino
- N Cordani
- N Ito
- N Suzuki
- O Baum
- P Grumati
- P Grumati
- Q Zhao
- R Buono
- R Sartori
- RA Jacobs
- RH Crosbie
- RH Crosbie
- S Brunelli
- S Falcone
- S Lokireddy
- S Schiaffino
- SH Francis
- SS Gross
- T Iwawaki
- V Eisner
- V Jovaisaite
- V Romanello
- WK Alderton
- XM Lu
- YM Kobayashi
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
- Author
- Abdel-Aziz AK
- Abdelfatah S
- Abdellatif M
- Abdoli A
- Abel S
- Abeliovich H
- Abildgaard MH
- Abudu YP
- Acevedo-Arozena A
- Adamopoulos IE
- Adeli K
- Adolph TE
- Adornetto A
- Aflaki E
- Agam G
- Agarwal A
- Aggarwal BB
- Agnello M
- Agostinis P
- Agrewala JN
- Agrotis A
- Aguilar PV
- Ahmad ST
- Ahmed ZM
- Ahumada-Castro U
- Aits S
- Aizawa S
- Akkoc Y
- Akoumianaki T
- Akpinar HA
- Al-Abd AM
- Al-Akra L
- Al-Gharaibeh A
- Alaoui-Jamali MA
- Alberti S
- Alcocer-Gómez E
- Alessandri C
- Ali M
- Alim Al-Bari MA
- Aliwaini S
- Alizadeh J
- Almacellas E
- Almasan A
- Alonso A
- Alonso GD
- Altan-Bonnet N
- Altieri DC
- Alves da Costa C
- Alves S
- Alzaharna MM
- Amadio M
- Amantini C
- Amaral C
- Ambrosio S
- Amer AO
- Ammanathan V
- An Z
- Andersen SU
- Andrabi SA
- Andrade-Silva M
- Andres AM
- Angelini S
- Ann D
- Anozie UC
- Ansari MY
- Antas P
- Antebi A
- Antón Z
- Anwar T
- Apetoh L
- Apostolova N
- Araki T
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- Araújo WL
- Arden C
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- Armstrong-James D
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- Aschner M
- Ashrafizadeh M
- Ashur-Fabian O
- Atanasov AG
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- Aveic S
- Aveleira CA
- Avin-Wittenberg T
- Aydin Y
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- Ávalos Y
- Önal G
- Üstün S
- Čolić M
- Đokić J
- Žerovnik E
- Publication venue
- 'Informa UK Limited'
- Publication date
- 01/01/2021
- Field of study
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field
Lawson criterion for ignition exceeded in an inertial fusion experiment
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- Publication venue
- 'American Physical Society (APS)'
- Publication date
- 06/07/2022
- Field of study
For more than half a century, researchers around the world have been engaged in attempts to achieve fusion ignition as a proof of principle of various fusion concepts. Following the Lawson criterion, an ignited plasma is one where the fusion heating power is high enough to overcome all the physical processes that cool the fusion plasma, creating a positive thermodynamic feedback loop with rapidly increasing temperature. In inertially confined fusion, ignition is a state where the fusion plasma can begin "burn propagation" into surrounding cold fuel, enabling the possibility of high energy gain. While "scientific breakeven" (i.e., unity target gain) has not yet been achieved (here target gain is 0.72, 1.37 MJ of fusion for 1.92 MJ of laser energy), this Letter reports the first controlled fusion experiment, using laser indirect drive, on the National Ignition Facility to produce capsule gain (here 5.8) and reach ignition by nine different formulations of the Lawson criterion
Genetic diversity and population structure of bocachico Prochilodus magdalenae (Pisces, Prochilodontidae) in the Magdalena River basin and its tributaries, Colombia
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- Agostinho AA
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- Publication venue
- 'FapUNIFESP (SciELO)'
- Publication date
- 01/01/2014
- Field of study
The Predictive Validity of the Return-to-Work Self-Efficacy Scale for Return-to-Work Outcomes in Claimants with Musculoskeletal Disorders
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- H Brister
- H Reiso
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- J Crook
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- Renée-Louise Franche
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- SE Lagerveld
- Sheilah Hogg-Johnson
- SJ Sinclair
- U Bültmann
- WO Spitzer
- WS Shaw
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
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- Meijer AJ
- Meijer AJ
- Meijer AJ.
- Melendez A
- Melendez A
- Meley D
- Mijaljica D
- Milne JC
- Miwa S
- Mizushima N
- Mizushima N
- Monastyrska I
- Morimoto N
- Mortimore GE
- Munz C.
- Murphy MP.
- Nakai A
- Nakai A
- Nakatogawa H
- Naples M
- Narendra D
- Nedelsky NB
- Nezis IP
- Nicklin P
- Nishida K
- Nixon RA.
- Nobukuni T
- Nobukuni T
- Noda T
- Norenberg MD
- Novikoff AB
- Nowikovsky K
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- Obara K
- Obara K
- Ogata M
- Ogier-Denis E
- Ohsumi Y.
- Opipari AW Jr
- Pacheco CD
- Pankiv S
- Papaconstantinou J.
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- Patrice Codogno
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- Ravikumar B
- Reaven GM.
- Reiling JH
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- Roccio M
- Roccio M
- Rubinsztein DC.
- Russell SJ
- Sakiyama T
- Salih DA
- Samari HR
- Sancak Y
- Sandoval H
- Sarkar S
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- Scarlatti F
- Scarlatti F
- Scherz-Shouval R
- Scherz-Shouval R
- Schiaffino S
- Schriner SE
- Schweers RL
- Scott RC
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- Seglen PO
- Seglen PO
- Selman C
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- Shibata M
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- Tang X
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- Publication venue
- 'Informa UK Limited'
- Publication date
- Field of study
- …