Works matching DE "CANAVAN disease"

Results: 42

Canavan disease: a rare form of leukodystrophy.

Published in:

2017

By:

Dogan, Gulec Mert;
Sigirci, Ahmet

Publication type:

Case Study

The elephant in the classroom.

Published in:

International Journal of Inclusive Education, 2009, v. 13, n. 7, p. 699, doi. 10.1080/13603110903045996

By:

Berland, Jody

Publication type:

Article

A novel Aspartoacylase (ASPA) Gene Mutation in Canavan Disease.

Published in:

Fetal & Pediatric Pathology, 2012, v. 31, n. 4, p. 236, doi. 10.3109/15513815.2011.650292

By:

Durmaz, Asude Alpman;
Akin, Haluk;
Onay, Huseyin;
Vahabi, Ali;
Ozkinay, Ferda

Publication type:

Article

Neuroprotective role of lipoic acid against acute toxicity of N-acetylaspartic acid.

Published in:

Molecular & Cellular Biochemistry, 2010, v. 344, n. 1/2, p. 231, doi. 10.1007/s11010-010-0547-x

By:

Pederzolli, Carolina;
Rosa, Andrea;
Oliveira, Amanda;
Coelho, Juliana;
Luz Becker, Débora;
Dalazen, Giovana;
Moraes, Tarsila;
Dutra-Filho, Carlos

Publication type:

Article

Loss of Central Auditory Processing in a Mouse Model of Canavan Disease.

Published in:

PLoS ONE, 2014, v. 9, n. 5, p. 1, doi. 10.1371/journal.pone.0097374

By:

von Jonquieres, Georg;
Froud, Kristina E.;
Klugmann, Claudia B.;
Wong, Ann C. Y.;
Housley, Gary D.;
Klugmann, Matthias

Publication type:

Article

Aspartoacylase-LacZ Knockin Mice: An Engineered Model of Canavan Disease.

Published in:

PLoS ONE, 2011, v. 6, n. 5, p. 1, doi. 10.1371/journal.pone.0020336

By:

Mersmann, Nadine;
Tkachev, Dmitri;
Jelinek, Ruth;
Röth, Philipp Thomas;
Möbius, Wiebke;
Ruhwedel, Torben;
Rühle, Sabine;
Weber-Fahr, Wolfgang;
Sartorius, Alexander;
Klugmann, Matthias

Publication type:

Article

Neurometabolic and genetic diseases: a question of screening?

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 11, p. 967, doi. 10.1111/dmcn.12003

By:

O'HARE, ANNE;
STREET, JESSICA REINE

Publication type:

Article

Upregulation of N-acetylaspartic Acid Induces Oxidative Stress to Contribute in Disease Pathophysiology.

Published in:

International Journal of Neuroscience, 2011, v. 121, n. 6, p. 305, doi. 10.3109/00207454.2011.558225

By:

Surendran, Sankar;
Bhatnagar, Maheep

Publication type:

Article

Suppressing N-Acetyl-L-Aspartate Synthesis Prevents Loss of Neurons in a Murine Model of Canavan Leukodystrophy.

Published in:

Journal of Neuroscience, 2017, v. 37, n. 2, p. 413, doi. 10.1523/JNEUROSCI.2013-16.2017

By:

Sohn, Jiho;
Bannerman, Peter;
Guo, Fuzheng;
Burns, Travis;
Miers, Laird;
Croteau, Christopher;
Pleasure, David;
Singhal, Naveen K.;
McDonough, Jennifer A.

Publication type:

Article

N-Acetylaspartate Synthase Deficiency Corrects the Myelin Phenotype in a Canavan Disease Mouse Model But Does Not Affect Survival Time.

Published in:

Journal of Neuroscience, 2015, v. 35, n. 43, p. 14501, doi. 10.1523/JNEUROSCI.1056-15.2015

By:

Maier, Helena;
Wang-Eckhardt, Lihua;
Hartmann, Dieter;
Gieselmann, Volkmar;
Eckhardt, Matthias

Publication type:

Article

Canavan disease with typical brain MRI and MRS findings.

Published in:

2017

By:

Israni, Anil V.;
Mandal, Anirban

Publication type:

journal article

Are Astrocytes the Missing Link Between Lack of Brain Aspartoacylase Activity and the Spongiform Leukodystrophy in Canavan Disease?

Published in:

Neurochemical Research, 2009, v. 34, n. 9, p. 1523, doi. 10.1007/s11064-009-9958-z

By:

Baslow, Morris H.;
Guilfoyle, David N.

Publication type:

Article

Myelin Lipid Abnormalities in the Aspartoacylase-Deficient Tremor Rat.

Published in:

Neurochemical Research, 2009, v. 34, n. 1, p. 138, doi. 10.1007/s11064-008-9726-5

By:

Jianfeng Wang;
Gusheng Wu;
Jeremy Francis;
Hong Li;
Mohit Jain;
Tadao Serikawa;
Robert Ledeen

Publication type:

Article

Cytotoxic edema and diffusion restriction as an early pathoradiologic marker in canavan disease: case report and review of the literature.

Published in:

2016

By:

Merrill, Steven T.;
Nelson, Gary R.;
Longo, Nicola;
Bonkowsky, Joshua L.

Publication type:

Case Study

Aspartoacylase supports oxidative energy metabolism during myelination.

Published in:

Journal of Cerebral Blood Flow & Metabolism, 2012, v. 32, n. 9, p. 1725, doi. 10.1038/jcbfm.2012.66

By:

Francis, Jeremy S;
Strande, Louise;
Markov, Vladamir;
Leone, Paola

Publication type:

Article

Genetic testing of leukodystrophies unraveling extensive heterogeneity in a large cohort and report of five common diseases and 38 novel variants.

Published in:

Scientific Reports, 2021, v. 11, n. 1, p. 1, doi. 10.1038/s41598-021-82778-0

By:

Mahdieh, Nejat;
Soveizi, Mahdieh;
Tavasoli, Ali Reza;
Rabbani, Ali;
Ashrafi, Mahmoud Reza;
Kohlschütter, Alfried;
Rabbani, Bahareh

Publication type:

Article

A Single Intravenous rAAV Injection as Late as P20 Achieves Efficacious and Sustained CNS Gene Therapy in Canavan Mice.

Published in:

Molecular Therapy, 2013, v. 21, n. 12, p. 2136, doi. 10.1038/mt.2013.138

By:

Ahmed, Seemin Seher;
Li, Huapeng;
Cao, Chunyan;
Sikoglu, Elif M;
Denninger, Andrew R;
Su, Qin;
Eaton, Samuel;
Liso Navarro, Ana A;
Xie, Jun;
Szucs, Sylvia;
Zhang, Hongwei;
Moore, Constance;
Kirschner, Daniel A;
Seyfried, Thomas N;
Flotte, Terence R;
Matalon, Reuben;
Gao, Guangping

Publication type:

Article

Gene Therapy for Canavan's Disease Takes a Step Forward.

Published in:

Molecular Therapy, 2013, v. 21, n. 3, p. 505, doi. 10.1038/mt.2013.25

By:

Ahmed, Seemin S;
Gao, Guangping

Publication type:

Article

904. The Systemic Human Immune Response to Intraparenchymal Administration of AAV.

Published in:

Molecular Therapy, 2006, v. 13, p. S348, doi. 10.1016/j.ymthe.2006.08.993

By:

McPhee, Scott W. J.;
Janson, Chris G.;
Chengwen Li;
Samulski, R. Jude;
Camp, Angelique S.;
Francis, Jeremy S.;
Shera, David;
Freese, Andrew;
Aita, Anthony L.;
Goldman, H. Warren;
Leone, Paola

Publication type:

Article

Parkinson’s disease: oxidative stress and therapeutic approaches.

Published in:

Neurological Sciences, 2010, v. 31, n. 5, p. 531, doi. 10.1007/s10072-010-0245-1

By:

Surendran, Sankar;
Rajasankar, Srinivasagam

Publication type:

Article

A next step in adeno-associated virus-mediated gene therapy for neurological diseases: regulation and targeting.

Published in:

British Journal of Clinical Pharmacology, 2013, v. 76, n. 2, p. 217, doi. 10.1111/bcp.12065

By:

Chtarto, Abdelwahed;
Bockstael, Olivier;
Tshibangu, Terence;
Dewitte, Olivier;
Levivier, Marc;
Tenenbaum, Liliane

Publication type:

Article

Increasing N-acetylaspartate in the Brain during Postnatal Myelination Does Not Cause the CNS Pathologies of Canavan Disease.

Published in:

Frontiers in Molecular Neuroscience, 2017, p. 1, doi. 10.3389/fnmol.2017.00161

By:

Appu, Abhilash P.;
Moffett, John R.;
Arun, Peethambaran;
Moran, Sean;
Nambiar, Vikram;
Krishnan, Jishnu K. S.;
Puthillathu, Narayanan;
Namboodiri, Aryan M. A.

Publication type:

Article

RasGRF1 disruption causes retinal photoreception defects and associated transcriptomic alterations.

Published in:

Journal of Neurochemistry, 2009, v. 110, n. 2, p. 641, doi. 10.1111/j.1471-4159.2009.06162.x

By:

Fernández-Medarde, Alberto;
Barhoum, Rima;
Riquelme, Raquel;
Porteros, Angel;
Núñez, Alejandro;
de Luis, Alberto;
de las Rivas, Javier;
de la Villa, Pedro;
Varela-Nieto, Isabel;
Santos, Eugenio

Publication type:

Article

Insights into the genetic epidemiology of Crohn's and rare diseases in the Ashkenazi Jewish population.

Published in:

PLoS Genetics, 2018, v. 14, n. 5, p. 1, doi. 10.1371/journal.pgen.1007329

By:

Rivas, Manuel A.;
Avila, Brandon E.;
Koskela, Jukka;
Huang, Hailiang;
Stevens, Christine;
Pirinen, Matti;
Haritunians, Talin;
Neale, Benjamin M.;
Kurki, Mitja;
Ganna, Andrea;
Graham, Daniel;
Glaser, Benjamin;
Peter, Inga;
Atzmon, Gil;
Barzilai, Nir;
Levine, Adam P.;
Schiff, Elena;
Pontikos, Nikolas;
Weisburd, Ben;
Lek, Monkol

Publication type:

Article

A missense mutation (p.G274R) in gene ASPA causes Canavan disease in a Pakistani family.

Published in:

Molecular Biology Reports, 2012, v. 39, n. 5, p. 6197, doi. 10.1007/s11033-011-1438-2

By:

Hussain, Rashida;
Daud, Shakeela;
Kakar, Naseebullah;
Ahmad, Adeel;
Baloch, Abdul;
Tareen, Abdul;
Kakar, Muhammad;
Ahmad, Jamil

Publication type:

Article

Stoffwechselstörungen mit typischen Veränderungen im MRT.

Published in:

Der Radiologe, 2010, v. 50, n. 9, p. 775, doi. 10.1007/s00117-009-1951-7

By:

Warmuth-Metz, M.

Publication type:

Article

Canavan disease - unusual imaging features in a child with mild clinical presentation.

Published in:

Pediatric Radiology, 2015, v. 45, n. 3, p. 457, doi. 10.1007/s00247-014-3116-8

By:

Nguyen, Ho;
Ishak, Gisele

Publication type:

Article

Miscellaneous.

Published in:: Current Medical Literature: Neurology, 2009, v. 25, n. 4, p. 121
Publication type:: Article

Makrosefali ayırıcı tanısında Canavan hastalığı: Olgu sunumu.

Published in:

Journal of Dr. Behcet Uz Children's Hospital, 2012, v. 2, n. 2, p. 107, doi. 10.5222/buchd.2012.107

By:

BAYRAM, Erhan;
TOPCU, Yasemin;
KARAKAYA, Pakize;
YIŞ, Uluç;
ÇAKMAKÇI, Handan;
HIZ KURUL, Semra

Publication type:

Article

Uncoupling N-acetylaspartate from brain pathology: implications for Canavan disease gene therapy.

Published in:

Acta Neuropathologica, 2018, v. 135, n. 1, p. 95, doi. 10.1007/s00401-017-1784-9

By:

von Jonquieres, Georg;
Spencer, Ziggy H. T.;
Rowlands, Benjamin D.;
Klugmann, Claudia B.;
Bongers, Andre;
Harasta, Anne E.;
Parley, Kristina E.;
Cederholm, Jennie;
Teahan, Orla;
Pickford, Russell;
Delerue, Fabien;
Ittner, Lars M.;
Fröhlich, Dominik;
McLean, Catriona A.;
Don, Anthony S.;
Schneider, Miriam;
Housley, Gary D.;
Rae, Caroline D.;
Klugmann, Matthias

Publication type:

Article

A SINE Insertion in ATP1B2 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA2).

Published in:

G3: Genes | Genomes | Genetics, 2017, v. 7, n. 8, p. 2729, doi. 10.1534/g3.117.043018

By:

Mauri, Nico;
Kleiter, Miriam;
Dietschi, Elisabeth;
Leschnik, Michael;
Högler, Sandra;
Wiedmer, Michaela;
Dietrich, Joëlle;
Henke, Diana;
Steffen, Frank;
Schuller, Simone;
Gurtner, Corinne;
Stokar-Regenscheit, Nadine;
O'Toole, Donal;
Bilzer, Thomas;
Herden, Christiane;
Oevermann, Anna;
Jagannathan, Vidhya;
Leeb, Tosso

Publication type:

Article

A Missense Variant in KCNJ10 in Belgian Shepherd Dogs Affected by Spongy Degeneration with Cerebellar Ataxia (SDCA1).

Published in:

G3: Genes | Genomes | Genetics, 2017, v. 7, n. 2, p. 663, doi. 10.1534/g3.116.038455

By:

Mauri, Nico;
Kleiter, Miriam;
Leschnik, Michael;
Högler, Sandra;
Dietschi, Elisabeth;
Wiedmer, Michaela;
Dietrich, Joëlle;
Henke, Diana;
Steffen, Frank;
Schuller, Simone;
Gurtner, Corinne;
Stokar-Regenscheit, Nadine;
O'toole, Donal;
Bilzer, Thomas;
Herden, Christiane;
Oevermann, Anna;
Jagannathan, Vidhya;
Leeb, Tosso

Publication type:

Article

Comparative computational assessment of the pathogenicity of mutations in the Aspartoacylase enzyme.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 6, p. 2105, doi. 10.1007/s11011-017-0090-5

By:

George Priya Doss, C.;
Zayed, Hatem

Publication type:

Article

Investigation of the motor system in two siblings with Canavan's disease: a combined transcranial magnetic stimulation (TMS) - diffusion tensor imaging (DTI) study.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 2, p. 307, doi. 10.1007/s11011-017-9955-x

By:

Kimiskidis, V.;
Papaliagkas, Vasileios;
Papagiannopoulos, S.;
Zafeiriou, D.;
Kazis, D.;
Tsatsali-Foroglou, E.;
Kouvatsou, Z.;
Kapina, V.;
Koutsonikolas, D.;
Anogianakis, G.;
Geroukis, T.;
Bostantjopoulou, S.

Publication type:

Article

Two patients with Canavan disease and structural modeling of a novel mutation.

Published in:

Metabolic Brain Disease, 2017, v. 32, n. 1, p. 171, doi. 10.1007/s11011-016-9896-9

By:

Zaki, Osama;
Krishnamoorthy, Navaneethakrishnan;
El Abd, Heba;
Harche, Soumaya;
Mattar, Reem;
Al disi, Rana;
Nofal, Mariam;
El Bekay, Rajaa;
Ahmed, Khalid;
George Priya Doss, C;
Zayed, Hatem

Publication type:

Article

Novel mutation in an Egyptian patient with infantile Canavan disease.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 3, p. 573, doi. 10.1007/s11011-015-9772-z

By:

Zaki, Osama;
Abd, Heba;
Mohamed, Shaimaa;
Zayed, Hatem

Publication type:

Article

Expanding the phenotype in aminoacylase 1 (ACY1) deficiency: characterization of the molecular defect in a 63-year-old woman with generalized dystonia.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 3, p. 587, doi. 10.1007/s11011-015-9778-6

By:

Sass, Jörn;
Vaithilingam, Jathana;
Gemperle-Britschgi, Corinne;
Delnooz, Cathérine;
Kluijtmans, Leo;
Warrenburg, Bart;
Wevers, Ron

Publication type:

Article

Structural modeling of p.V31F variant in the aspartoacylase gene.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 3, p. 723, doi. 10.1007/s11011-016-9796-z

By:

Krishnamoorthy, Navaneethakrishnan;
Zayed, Hatem

Publication type:

Article

Atypical clinical and radiological course of a patient with Canavan disease.

Published in:

Metabolic Brain Disease, 2016, v. 31, n. 2, p. 475, doi. 10.1007/s11011-015-9767-9

By:

Sarret, Catherine;
Boespflug-Tanguy, Odile;
Rodriguez, Diana

Publication type:

Article

N-acetylaspartic acid impairs enzymatic antioxidant defenses and enhances hydrogen peroxide concentration in rat brain.

Published in:

Metabolic Brain Disease, 2010, v. 25, n. 2, p. 251, doi. 10.1007/s11011-010-9202-1

By:

Pederzolli, Carolina Didonet;
Mescka, Caroline Paula;
Magnusson, Alessandra Selinger;
Deckmann, Kátia Bueno;
Streck, Evelise de Souza;
Sgaravatti, Ângela Malysz;
Sgarbi, Mirian Bonaldi;
Wyse, Angela T. S.;
Wannmacher, Clovis M. D.;
Wajner, Moacir;
Dutra-Filho, Carlos S.

Publication type:

Article

Intracerebroventricular administration of N-acetylaspartic acid impairs antioxidant defenses and promotes protein oxidation in cerebral cortex of rats.

Published in:

Metabolic Brain Disease, 2009, v. 24, n. 2, p. 283, doi. 10.1007/s11011-009-9137-6

By:

Carolina Pederzolli;
Francieli Rockenbach;
Fernanda Zanin;
Nicoli Henn;
Eline Romagna;
Ângela Sgaravatti;
Ângela de Mattos Dutra

Publication type:

Article

Nur7 Is a Nonsense Mutation in the Mouse Aspartoacylase Gene That Causes Spongy Degeneration of the CNS.

Published in:

Journal of Neuroscience, 2008, v. 28, n. 45, p. 11537, doi. 10.1523/JNEUROSCI.1490-08.2008

By:

Traka, Maria;
Wollmann, Robert L.;
Cerda, Sonia R.;
Dugas, Jason;
Barres, Ben A.;
Popko, Brian

Publication type:

Article