Thursday, March 15, 2012
Repligen Initiates Phase 1 Clinical Trial of RG2833 in Patients with Friedreich's Ataxia
WALTHAM, MA - March 15, 2012 - Repligen Corporation (NASDAQ:RGEN) announced today that it has enrolled its first patient in a Phase 1 clinical trial of RG2833 in adult patients with Friedreich's ataxia (FA). read more .....
Preimplantation genetic diagnosis (PGD) for Huntington's disease: the experience of three European centres
European Journal of Human Genetics (2012) 20, 368–375; doi:10.1038/ejhg.2011.202.
Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos CFM Dreesen, Martine De Rycke, Inge Liebaers, Joep PM Geraedts, Christine EM De Die-Smulders and Stéphane Viville.
Keywords: preimplantation genetic diagnosis (PGD); Huntington's disease (HD); HTT gene; exclusion testing; delivery rates; prenatal diagnosis
Full text PDF
Inheritance patterns of the huntington (autosomal dominant) differ from the friedreich's ataxia (autosomal recessive), but sometimes the future parents know that are carriers before the pregnancy, then, this techniques could be useful. (Important note: this is only scientific information, perhaps some people may have ethical objections with these practices)
Maartje C Van Rij, Marjan De Rademaeker, Céline Moutou, Jos CFM Dreesen, Martine De Rycke, Inge Liebaers, Joep PM Geraedts, Christine EM De Die-Smulders and Stéphane Viville.
Keywords: preimplantation genetic diagnosis (PGD); Huntington's disease (HD); HTT gene; exclusion testing; delivery rates; prenatal diagnosis
Full text PDF
Inheritance patterns of the huntington (autosomal dominant) differ from the friedreich's ataxia (autosomal recessive), but sometimes the future parents know that are carriers before the pregnancy, then, this techniques could be useful. (Important note: this is only scientific information, perhaps some people may have ethical objections with these practices)
Do we always prioritize balance when walking? Towards an integrated model of task prioritization
Mov. Disord.. doi: 10.1002/mds.24963
Yogev- Seligmann, G., Hausdorff, J. M. and Giladi, N. (2012), .
Keywords: dual task, postural control, prioritization executive function, motor and cognitive capabilities, gait, fall risk, neurological diseases.
Yogev- Seligmann, G., Hausdorff, J. M. and Giladi, N. (2012), .
Keywords: dual task, postural control, prioritization executive function, motor and cognitive capabilities, gait, fall risk, neurological diseases.
Wednesday, March 14, 2012
Expression of axonal protein degradation machinery in sympathetic neurons is regulated by nerve growth factor
J. Neurosci. Res.. (2012) doi: 10.1002/jnr.23041
Frampton, J. P., Guo, C. and Pierchala, B. A.
Keywords: proteasome, lysosome, NGF, transport, autophagy.
In Friedreich's ataxia research currently there is a work line about the frataxin's degradation by the proteasome , the idea is seeking to delay the degradation of frataxin, and therefore lengthen the shelf life.
References:
Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich’s Ataxia
New project: Identification of the E3 ligase that ubiquitinates frataxin
Frampton, J. P., Guo, C. and Pierchala, B. A.
Keywords: proteasome, lysosome, NGF, transport, autophagy.
In Friedreich's ataxia research currently there is a work line about the frataxin's degradation by the proteasome , the idea is seeking to delay the degradation of frataxin, and therefore lengthen the shelf life.
References:
Preventing the ubiquitin/proteasome-dependent degradation of frataxin, the protein defective in Friedreich’s Ataxia
New project: Identification of the E3 ligase that ubiquitinates frataxin
Cardiac Dysfunction Exacerbated by Endocrinopathies in Friedreich Ataxia: A Case Series.
J Child Neurol. 2012 Mar 8. [Epub ahead of print]
Snyder M, Seyer L, Lynch DR, Resnick A, Zesiewicz TA.
Keywords: Friedreich ataxia, gait abnormalities, cardiomyopathy, diabetes, congestive heart failure, frataxin deficiency, oxidative damage, metabolic syndrome, diabetes.
Snyder M, Seyer L, Lynch DR, Resnick A, Zesiewicz TA.
Keywords: Friedreich ataxia, gait abnormalities, cardiomyopathy, diabetes, congestive heart failure, frataxin deficiency, oxidative damage, metabolic syndrome, diabetes.
Tuesday, March 13, 2012
Exonic Deletions of FXN and Early-Onset Friedreich Ataxia
Arch Neurol. Published online March 12, 2012. doi:10.1001/archneurol.2011.834
Mathieu Anheim, MD, PhD; Louise-Laure Mariani, MD; Patrick Calvas, MD, PhD; Emmanuel Cheuret, MD; Fabien Zagnoli, MD; Sylvie Odent, MD; Claire Seguela, BS; Cecilia Marelli, MD; Marlène Fritsch, BS; Jean-Pierre Delaunoy, PhD; Alexis Brice, MD, PhD; Alexandra Dürr, MD, PhD; Michel Koenig, MD, PhD
Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS) (Drs Anheim, Marelli, Brice, and Dürr), Assistance publique–Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics (Drs Anheim, Mariani, Marelli, Brice, and Dürr), and Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adulte (Drs Anheim, Marelli, Brice, and Dürr), Paris, Service de Génétique Médicale, Université de Toulouse, Hôpital Purpan (Dr Calvas), and Service de neuropédiatrie, Hopital des enfants (Dr Cheuret), Toulouse, Neurologie Hôpital d’Instruction des Armées Clermont-Tonnerre, Brest (Dr Zagnoli), Service de Génétique clinique CHU de Rennes, Université Rennes 1, CNRS (Dr Odent), Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg (Mesdames Seguela and Fritsch and Drs Delaunoy and Koenig), and Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, Université de Strasbourg, INSERM, Illkirch (Dr Koenig), France.
Keywords: Friedreich ataxia (FA), early onset, homozygous GAA expansions, FXN gene, point mutation, exonic deletion mutation (FAexdel), confinement to wheelchair, scoliosis, diabetes mellitus, cardiomyopathy.
Mathieu Anheim, MD, PhD; Louise-Laure Mariani, MD; Patrick Calvas, MD, PhD; Emmanuel Cheuret, MD; Fabien Zagnoli, MD; Sylvie Odent, MD; Claire Seguela, BS; Cecilia Marelli, MD; Marlène Fritsch, BS; Jean-Pierre Delaunoy, PhD; Alexis Brice, MD, PhD; Alexandra Dürr, MD, PhD; Michel Koenig, MD, PhD
Université Pierre et Marie Curie, Centre de Recherche de l'Institut du Cerveau et de la Moelle épinière, Institut National de la Santé et de la Recherche Médicale (INSERM), and Centre National de la Recherche Scientifique (CNRS) (Drs Anheim, Marelli, Brice, and Dürr), Assistance publique–Hôpitaux de Paris, Pitié-Salpêtrière Hospital, Department of Genetics and Cytogenetics (Drs Anheim, Mariani, Marelli, Brice, and Dürr), and Centre de Référence des Maladies Neurogénétiques de l'Enfant et de l'Adulte (Drs Anheim, Marelli, Brice, and Dürr), Paris, Service de Génétique Médicale, Université de Toulouse, Hôpital Purpan (Dr Calvas), and Service de neuropédiatrie, Hopital des enfants (Dr Cheuret), Toulouse, Neurologie Hôpital d’Instruction des Armées Clermont-Tonnerre, Brest (Dr Zagnoli), Service de Génétique clinique CHU de Rennes, Université Rennes 1, CNRS (Dr Odent), Laboratoire de Diagnostic Génétique, Nouvel Hôpital Civil, Strasbourg (Mesdames Seguela and Fritsch and Drs Delaunoy and Koenig), and Institut de Génétique et de Biologie Moléculaire et Cellulaire, CNRS, Université de Strasbourg, INSERM, Illkirch (Dr Koenig), France.
Keywords: Friedreich ataxia (FA), early onset, homozygous GAA expansions, FXN gene, point mutation, exonic deletion mutation (FAexdel), confinement to wheelchair, scoliosis, diabetes mellitus, cardiomyopathy.
The effect of lipoic acid and vitamin E therapies in individuals with the metabolic syndrome
Although there are large differences between FA and the metabolic syndrome, mitochondrial function is significantly impaired in both. Many ataxians are taking on a regular basis lipoic acid (ALA) and Vitamin E, it is interesting to know their effects on the heart and on insulin and glucose levels.
Nutrition, Metabolism & Cardiovascular Diseases - 09 March 2012,(10.1016/j.numecd.2011.11.006)
P.J. Manning, W.H.F. Sutherland, S.M. Williams, R.J. Walker, E.A. Berry, S.A. De Jong, A.R. Ryalls
Department of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
KEYWORDS: Antioxidant, Metabolic syndrome, Non esterified fatty acids, Lipoic acid, Vitamin E
Nutrition, Metabolism & Cardiovascular Diseases - 09 March 2012,(10.1016/j.numecd.2011.11.006)
P.J. Manning, W.H.F. Sutherland, S.M. Williams, R.J. Walker, E.A. Berry, S.A. De Jong, A.R. Ryalls
Department of Medicine, Dunedin School of Medicine, University of Otago, Dunedin, New Zealand
KEYWORDS: Antioxidant, Metabolic syndrome, Non esterified fatty acids, Lipoic acid, Vitamin E
Friday, March 9, 2012
Evidence for a Role of Frataxin in Pancreatic Islets Isolated from Multi-Organ Donors with and Without Type 2 Diabetes Mellitus.
Horm Metab Res. 2012 Mar 7. [Epub ahead of print]
Del Guerra S, D'Aleo V, Gualtierotti G, Pandolfi R, Boggi U, Vistoli F, Barnini S, Filipponi F, Del Prato S, Lupi R.
Department of Endocrinology and Metabolism, Section of Metabolic Diseases and Diabetes, Pisa University Hospital, Pisa, Italy.
Keywords: Frataxin (FXN), iron metabolism, reactive oxygen and/or nitrogen species, pancreatic islets, Type 2 diabetes mellitus, insulin release, glucose stimulation (SI), nitrotyrosine.
Del Guerra S, D'Aleo V, Gualtierotti G, Pandolfi R, Boggi U, Vistoli F, Barnini S, Filipponi F, Del Prato S, Lupi R.
Department of Endocrinology and Metabolism, Section of Metabolic Diseases and Diabetes, Pisa University Hospital, Pisa, Italy.
Keywords: Frataxin (FXN), iron metabolism, reactive oxygen and/or nitrogen species, pancreatic islets, Type 2 diabetes mellitus, insulin release, glucose stimulation (SI), nitrotyrosine.
Wednesday, March 7, 2012
Small biotechs raring to cash in on the orphan disease market
Nature Medicine 18, 330–331 (2012), doi:10.1038/nm0312-330
Tuesday, March 6, 2012
Friedreich’s Ataxia reveals a mechanism for coordinate regulation of oxidative metabolism via feedback inhibition of the SIRT3 deacetylase
Hum. Mol. Genet. (2012) doi: 10.1093/hmg/dds095 First published online: March 6, 2012
Gregory R. Wagner 1, P. Melanie Pride 2, Clifford M. Babbey 2 and R. Mark Payne1,2
1 Dept. of Medical & Molecular Genetics, 2D ept. of Pediatrics, Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202
Keywords: Friedreich’s Ataxia (FRDA), frataxin, lysine acetylation, mitochondrial function, SIRT3 deacetylase, protein hyperacetylation.
Gregory R. Wagner 1, P. Melanie Pride 2, Clifford M. Babbey 2 and R. Mark Payne1,2
1 Dept. of Medical & Molecular Genetics, 2D ept. of Pediatrics, Riley Heart Research Center, Wells Center for Pediatric Research, Indiana University School of Medicine, Indianapolis, IN 46202
Keywords: Friedreich’s Ataxia (FRDA), frataxin, lysine acetylation, mitochondrial function, SIRT3 deacetylase, protein hyperacetylation.
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