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chromosome 22q deletion

Parkinson's chromosome deletion linked to other genetic disorders

Researchers, led by BRC-supported Professor Nicholas Wood, UCL Institute of Neurology, have made a breakthrough in their understanding of Parkinson’s disease after they discovered a chromosome deletion linked to Parkinson’s disease and other genetic disorders. More...

Prof John Hardy

Prof John Hardy is the first UK winner of $3m Breakthrough Prize in Life Sciences

Professor John Hardy (UCL Institute of Neurology) has been awarded the $3 million Breakthrough Prize in Life Sciences for his pioneering research into the genetic causes of Alzheimer’s disease, other forms of dementia and Parkinson’s disease. More...

John Hardy, PhD, right, accepted the 2015 Robert A. Pritzker Prize from MJFF VP Brian Fiske, PhD, and Michael J. Fox on April 15.

John Hardy awarded 2015 Robert A. Pritzker Prize for Leadership in Parkinson's Research

One of the UK Parkinson's Disease Consortium Principal Investigators, Prof John Hardy, has been awarded the 2015 Robert A. Pritzker Prize for his leadership in Parkinson's genetics research. The award was presented by Michael J. Fox at a ceremony in New York on April 15. From the Michael J. Fox Foundation website: More...

Webcast - Prof Nicholas Wood - Advances in Genetic Understanding of Parkinson's Disease.

Video: Advances in Genetic Understanding of Parkinson's Disease

Webcast of the presentation entitled ‘Advances in Genetic Understanding of Parkinson's Disease’ given by Nicholas Wood (University College London, United Kingdom) presented at the Biochemical Society Hot Topic event, PINK1-Parkin Signalling in Parkinson’s Disease and Beyond, held in December 2014. More...

Pedigrees and I-FP-CIT SPECT scan images of the four families with GCH1 mutations involved in this study.

GCH1 gene and Parkinson's risk

A study published in Brain, led by researchers at UCL Institute of Neurology, has shown that genetic mutations which cause a decrease in dopamine production in the brain and lead to a form of childhood-onset Dystonia, also play a role in the development of Parkinson’s disease.

Helene Plun-Favreau

(MRC Research Fellow)

My scientific career has always followed my interest in signalling pathways in normal as well as in pathological conditions. During the three years of my PhD work at INSERM U564 in Angers, France, I received specialist training on cellular biology and biochemistry. My graduate work allowed me to identify a new cytokine in the Interleukin-6 family responsible for motor neuron survival. I then focused on the structure of the cytokines of this family, which allowed me to be acquainted with modelling studies, as well as on the specific signalling pathways influenced by these molecules. I graduated in December 2002 and then decided to pursue my career in a signal transduction laboratory. Being aware of both Cancer Research UK and Julian Downward’s renown, I joined his laboratory in 2002 as a post-doctoral fellow. During that period, I have been led to work on apoptosis and Parkinson’s Disease (PD). I studied the regulation of HtrA2 by PINK1, two mitochondrial proteins implicated in PD.

My ambitions were to pursue academic scientific-clinical research in the PD field. Having been awarded a career development award in September 2007, I am currently leading the Neurological Signaling Group in the Molecular Neuroscience department of the Institute of Neurology, UCL. The major interest of my group is to dissect the molecular pathways implicated in PD


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Number of items: 35.


Berezhnov, AV; Soutar, MPM; Fedotova, EI; Frolova, MS; Plun-Favreau, H; Zinchenko, VP; Abramov, AY; (2016) Intracellular pH Modulates Autophagy and Mitophagy. JOURNAL OF BIOLOGICAL CHEMISTRY , 291 (16) pp. 8701-8708. 10.1074/jbc.M115.691774.

Delgado-Camprubi, M; Esteras, N; Soutar, MP; Plun-Favreau, H; Abramov, AY; (2016) Deficiency of Parkinson's disease-related gene Fbxo7 is associated with impaired mitochondrial metabolism by PARP activation. Cell Death Differ 10.1038/cdd.2016.104.


Birsa, N; Norkett, R; Wauer, T; Mevissen, TE; Wu, HC; Foltynie, T; Bhatia, K; (2014) Lysine 27 Ubiquitination of the Mitochondrial Transport Protein Miro Is Dependent on Serine 65 of the Parkin Ubiquitin Ligase. J Biol Chem , 289 (21) pp. 14569-14582. 10.1074/jbc.M114.563031. Green open access

Tufi, R; Gandhi, S; de Castro, IP; Lehmann, S; Angelova, PR; Dinsdale, D; Deas, E; (2014) Enhancing nucleotide metabolism protects against mitochondrial dysfunction and neurodegeneration in a PINK1 model of Parkinson's disease. Nat Cell Biol , 16 (2) pp. 157-166. 10.1038/ncb2901.


Bartolome, F; Wu, HC; Burchell, VS; Preza, E; Wray, S; Mahoney, CJ; Fox, NC; (2013) Pathogenic VCP mutations induce mitochondrial uncoupling and reduced ATP levels. Neuron , 78 (1) 57 - 64. 10.1016/j.neuron.2013.02.028. Green open access

Burchell, VS; Nelson, DE; Sanchez-Martinez, A; Delgado-Camprubi, M; Ivatt, RM; Pogson, JH; Randle, SJ; (2013) The Parkinson's disease-linked proteins Fbxo7 and Parkin interact to mediate mitophagy. NATURE NEUROSCIENCE , 16 (9) 1257-U135. 10.1038/nn.3489.

Manzoni, C; Mamais, A; Dihanich, S; Abeti, R; Soutar, MP; Plun-Favreau, H; Giunti, P; (2013) Inhibition of LRRK2 kinase activity stimulates macroautophagy. Biochim Biophys Acta , 1833 (12) pp. 2900-2910. 10.1016/j.bbamcr.2013.07.020. Green open access

Manzoni, C; Mamais, A; Dihanich, S; McGoldrick, P; Devine, MJ; Zerle, J; Kara, E; (2013) Pathogenic Parkinson's disease mutations across the functional domains of LRRK2 alter the autophagic/lysosomal response to starvation. Biochemical and Biophysical Research Communications , 441 (4) pp. 862-866. 10.1016/j.bbrc.2013.10.159. Green open access


Fitzgerald, JC; Camprubi, MD; Dunn, L; Wu, H-C; Ip, NY; Kruger, R; Martins, LM; (2012) Phosphorylation of HtrA2 by cyclin-dependent kinase-5 is important for mitochondrial function. CELL DEATH AND DIFFERENTIATION , 19 (2) pp. 257-266. 10.1038/cdd.2011.90.

Plun-Favreau, H; Burchell, VS; Holmström, KM; Yao, Z; Deas, E; Cain, K; Fedele, V; (2012) HtrA2 deficiency causes mitochondrial uncoupling through the F₁F₀-ATP synthase and consequent ATP depletion. Cell Death and Disease , 3 , Article e335. 10.1038/cddis.2012.77. Green open access


Deas, E; Plun-Favreau, H; Gandhi, S; Desmond, H; Kjaer, S; Loh, SHY; Renton, AEM; (2011) PINK1 cleavage at position A103 by the mitochondrial protease PARL. Human Molecular Genetics , 20 (5) pp. 867-879. 10.1093/hmg/ddq526. Green open access

Deas, E; Wood, NW; Plun-Favreau, H; (2011) Mitophagy and Parkinson's disease: The PINK1-parkin link. BBA-MOL CELL RES , 1813 (4) 623 - 633. 10.1016/j.bbamcr.2010.08.007.

Devine, MJ; Plun-Favreau, H; Wood, NW; (2011) Parkinson's disease and cancer: two wars, one front. NAT REV CANCER , 11 (11) 812 - +. 10.1038/nrc3150.

Yao, Z; Gandhi, S; Burchell, VS; Plun-Favreau, H; Wood, NW; Abramov, AY; (2011) Cell metabolism affects selective vulnerability in PINK1-associated Parkinson's disease. JOURNAL OF CELL SCIENCE , 124 (24) pp. 4194-4202. 10.1242/jcs.088260. Gold open access


Burchell, VS; Gandhi, S; Deas, E; Wood, NW; Abramov, AY; Plun-Favreau, H; (2010) Targeting mitochondrial dysfunction in neurodegenerative disease: Part II. EXPERT OPIN THER TAR , 14 (5) 497 - 511. 10.1517/14728221003730434.

Burchell, VS; Gandhi, S; Deas, E; Wood, NW; Abramov, AY; Plun-Favreau, H; (2010) Targeting mitochondrial dysfunction in neurodegenerative disease: Part I. EXPERT OPIN THER TAR , 14 (4) 369 - 385. 10.1517/14728221003652489.

Plun-Favreau, H; Lewis, PA; Hardy, J; Martins, LM; Wood, NW; (2010) Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genetics , 6 (12) , Article e1001257. 10.1371/journal.pgen.1001257. Green open access

Yao, Z; Gandhi, S; Plun-Favreau, H; Wood, NW; Abramov, AY; (2010) PINK1 Deficiency and Mitochondrial Dysfunction in Neurons and Skeletal Myocytes. BIOPHYSICAL JOURNAL , 98 (3) 381A-381A.


Deas, E; Plun-Favreau, H; Wood, NW; (2009) PINK1 function in health and disease. EMBO MOL MED , 1 (3) 152 - 165. 10.1002/emmm.200900024. Gold open access

Gandhi, S; Wood-Kaczmar, A; Yao, Z; Plun-Favreau, H; Deas, E; Klupsch, K; Downward, J; (2009) PINK1-Associated Parkinson's Disease Is Caused by Neuronal Vulnerability to Calcium-induced Cell Death. MOL CELL , 33 (5) 627 - 638. 10.1016/j.molcel.2009.02.013. Gold open access

Moisoi, N; Klupsch, K; Fedele, V; East, P; Sharma, S; Renton, A; Plun-Favreau, H; (2009) Mitochondrial dysfunction triggered by loss of HtrA2 results in the activation of a brain-specific transcriptional stress response. CELL DEATH DIFFER , 16 (3) 449 - 464. 10.1038/cdd.2008.166.

Tain, LS; Chowdhury, RB; Tao, RN; Plun-Favreau, H; Moisoi, N; Martins, LM; Downward, J; (2009) Drosophila HtrA2 is dispensable for apoptosis but acts downstream of PINK1 independently from Parkin. CELL DEATH DIFFER , 16 (8) 1118 - 1125. 10.1038/cdd.2009.23.


Fitzgerald, JC; Plun-Favreau, H; (2008) Emerging pathways in genetic Parkinson's disease: Autosomal-recessive genes in Parkinson's disease - a common pathway? FEBS J , 275 (23) 5758 - 5766. 10.1111/j.1742-4658.2008.06708.x.

Plun-Favreau, H; Gandhi, S; Wood-Kaczmar, A; Deas, E; Yao, Z; Wood, NW; (2008) What Have PINK1 and HtrA2 Genes Told Us about the Role of Mitochondria in Parkinson's Disease? MITOCHONDRIA AND OXIDATIVE STRESS IN NEURODEGENERATIVE DISORDERS , 1147 30 - 36. 10.1196/annals.1427.032.

Plun-Favreau, H; Hardy, J; (2008) PINK1 in mitochondrial function. P NATL ACAD SCI USA , 105 (32) 11041 - 11042. 10.1073/pnas.0805908105. Gold open access


Plun-Favreau, H; Klupsch, K; Moisoi, N; Gandhi, S; Kjaer, S; Frith, D; Harvey, K; (2007) The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. NAT CELL BIOL , 9 (11) 1243 - U63. 10.1038/ncb1644.


Strauss, KM; Martins, LM; Plun-Favreau, H; Marx, FP; Kautzmann, S; Berg, D; Gasser, T; (2005) Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. HUM MOL GENET , 14 (15) 2099 - 2111. 10.1093/hmg/ddi215.

Strauss, KM; Martins, LM; Plun-Favreau, H; Marx, FP; Kautzmann, S; Berg, D; Gasser, T; (2005) Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Human Molecular Genetics , 15 (14) pp. 2099-2111.


Perret, D; Guillet, C; Elson, G; Froger, J; Plun-Favreau, H; Rousseau, F; Chabbert, M; (2004) Two different contact sites are recruited by cardiotrophin-like cytokine (CLC) to generate the CLC/CLF and CLC/sCNTFR alpha composite cytokines. J BIOL CHEM , 279 (42) 43961 - 43970. 10.1074/jbc.M407686200. Gold open access


Plun-Favreau, H; Perret, D; Diveu, C; Froger, J; Chevalier, S; Lelievre, E; Gascan, H; (2003) Leukemia inhibitory factor (LIF), cardiotrophin-1, and oncostatin M share structural binding determinants in the immunoglobulin-like domain of LIF receptor. J BIOL CHEM , 278 (29) 27169 - 27179. 10.1074/jbc.M303168200. Gold open access


Guillet, C; Lelievre, E; Plun-Favreau, H; Froger, J; Chabbert, M; Hermann, J; de Coignac, AB; (2002) Functionally active fusion protein of the novel composite cytokine CLC/soluble CNTF receptor. EUR J BIOCHEM , 269 (7) 1932 - 1941. 10.1046/j.1432-1033.2002.02850.x.

Lisbonne, M; Plun-Favreau, H; (2002) French Society of Immunology: Cytokine Meeting May 16-17, 2002, Le Croisic, Port-aux-Rocs, France. Eur Cytokine Netw , 13 (4) pp. 474-476.


Lelievre, E; Plun-Favreau, H; Chevalier, S; Froger, J; Guillet, C; Elson, GCA; Gauchat, JF; (2001) Signaling pathways recruited by the cardiotrophin-like cytokine/cytokine-like factor-1 composite cytokine - Specific requirement of the membrane-bound form of ciliary neurotrophic factor receptor alpha component. J BIOL CHEM , 276 (25) 22476 - 22484. Gold open access

Plun-Favreau, H; Elson, G; Chabbert, M; Froger, J; deLapeyriere, O; Lelievre, E; Guillet, C; (2001) The ciliary neurotrophic factor receptor alpha component induces the secretion of and is required for functional responses to cardiotrophin-like cytokine. EMBO J , 20 (7) 1692 - 1703.


Elson, GCA; Lelievre, E; Guillet, C; Chevalier, S; Plun-Favreau, H; Froger, J; Suard, I; (2000) CLF associates with CLC to form a functional heteromeric ligand for the CNTF receptor complex. NAT NEUROSCI , 3 (9) 867 - 872.

This list was generated on Sun Nov 27 07:39:04 2016 GMT.

Page last modified on 20 mar 13 17:01