Works matching Gangliosidoses

Results: 142

Serial 1H-MRS in GM2 gangliosidoses.

Published in:

2008

By:

Assadi, Mitra;
Baseman, Susan;
Janson, Christopher;
Dah-Jyuu Wang;
Bilaniuk, Larissa;
Leone, Paola;
Wang, Dah-Jyuu

Publication type:

journal article

In situ detection of GM1 and GM2 gangliosides using immunohistochemical and immunofluorescent techniques for auxiliary diagnosis of canine and feline gangliosidoses.

Published in:

BMC Veterinary Research, 2016, v. 12, p. 1, doi. 10.1186/s12917-016-0691-y

By:

Kohyama, Moeko;
Yabuki, Akira;
Ochiai, Kenji;
Nakamoto, Yuya;
Uchida, Kazuyuki;
Hasegawa, Daisuke;
Takahashi, Kimimasa;
Kawaguchi, Hiroaki;
Tsuboi, Masaya;
Yamato, Osamu

Publication type:

Article

Gangliosides and Gangliosidoses: Principles of Molecular and Metabolic Pathogenesis.

Published in:

Journal of Neuroscience, 2013, v. 33, n. 25, p. 10195, doi. 10.1523/JNEUROSCI.0822-13.2013

By:

Sandhoff, Konrad;
Harzer, Klaus

Publication type:

Article

Isolated globus pallidi hypointensities in type 2 GM1 gangliosidoses.

Published in:

2017

By:

Kamate, Mahesh;
Mittal, Nishant

Publication type:

journal article

Thymic Alterations in GM2 Gangliosidoses Model Mice.

Published in:

PLoS ONE, 2010, v. 5, n. 8, p. 1, doi. 10.1371/journal.pone.0012105

By:

Kanzaki, Seiichi;
Yamaguchi, Akira;
Yamaguchi, Kayoko;
Kojima, Yoshitsugu;
Suzuki, Kyoko;
Koumitsu, Noriko;
Nagashima, Yoji;
Nagahama, Kiyotaka;
Ehara, Michiko;
Hirayasu, Yoshio;
Ryo, Akihide;
Aoki, Ichiro;
Yamanaka, Shoji

Publication type:

Article

GM1-Gangliosidosis presenting as nonimmune hydrops fetalis: a case report.

Published in:

Journal of Perinatal Medicine, 1996, v. 24, n. 5, p. 445

By:

Tasso, Maria-Jesús;
Martinez-Gutierrez, Andrés;
Carrascosa, Carmen;
Vazquez, Socorro;
Tebar, Roque

Publication type:

Article

Optimization of Enzyme Essays to Enhance Reliability of Activity Measurements in Leukocyte Lysates for the Diagnosis of Metachromatic Leukodystrophy and Gangliosidoses.

Published in:

Cells (2073-4409), 2020, v. 9, n. 12, p. 2553, doi. 10.3390/cells9122553

By:

Strobel, Sebastian;
Hesse, Naomi;
Santhanakumaran, Vidiyaah;
Groeschel, Samuel;
Bruchelt, Gernot;
Krägeloh-Mann, Ingeborg;
Böhringer, Judith

Publication type:

Article

CRISPR/nCas9-Based Genome Editing on GM2 Gangliosidoses Fibroblasts via Non-Viral Vectors.

Published in:

International Journal of Molecular Sciences, 2022, v. 23, n. 18, p. N.PAG, doi. 10.3390/ijms231810672

By:

Leal, Andrés Felipe;
Cifuentes, Javier;
Quezada, Valentina;
Benincore-Flórez, Eliana;
Cruz, Juan Carlos;
Reyes, Luis Humberto;
Espejo-Mojica, Angela Johana;
Alméciga-Díaz, Carlos Javier

Publication type:

Article

GM2 Gangliosidoses: Clinical Features, Pathophysiological Aspects, and Current Therapies.

Published in:

International Journal of Molecular Sciences, 2020, v. 21, n. 17, p. 6213, doi. 10.3390/ijms21176213

By:

Leal, Andrés Felipe;
Benincore-Flórez, Eliana;
Solano-Galarza, Daniela;
Garzón Jaramillo, Rafael Guillermo;
Echeverri-Peña, Olga Yaneth;
Suarez, Diego A.;
Alméciga-Díaz, Carlos Javier;
Espejo-Mojica, Angela Johana

Publication type:

Article

Gangliosidose GM1: um relato de caso.

Published in:

2021

By:

Dienstmann, Guilherme;
Souza, Matheus L. R.;
Bergmann, Flávia Helena;
Castanhel, Francielle Del;
Simão, Camila S.;
Bohnert, Liara;
Cyrino, Lorena R.

Publication type:

Case Study

A natural history study of pediatric patients with early onset of GM1 gangliosidosis, GM2 gangliosidoses, or gaucher disease type 2 (RETRIEVE).

Published in:

Orphanet Journal of Rare Diseases, 2024, v. 19, n. 1, p. 1, doi. 10.1186/s13023-024-03409-1

By:

Héron, Bénédicte;
Batzios, Spyros;
Mengel, Eugen;
Giugliani, Roberto;
Patterson, Marc;
Gautschi, Matthias;
Cornelisse, Peter;
Trokan, Luba;
Schwierin, Barbara;
Rohrbach, Marianne

Publication type:

Article

"Cherry red spot" in a patient with Tay-Sachs disease: case report.

Published in:

2009

By:

de Aragão, Ricardo Evangelista Marrocos;
Ramos, Régia Maria Gondim;
Pereira, Felipe Bezerra Alves;
Bezerra, Andreya Ferreira Rodrigues;
Fernandes, Daniel Nogueira

Publication type:

Case Study

Mutation of the GM2 activator protein in a feline model of GM2 gangliosidosis.

Published in:

Acta Neuropathologica, 2005, v. 110, n. 5, p. 443, doi. 10.1007/s00401-005-1040-6

By:

Martin, Douglas R.;
Cox, Nancy R.;
Morrison, Nancy E.;
Kennamer, David M.;
Peck, Stephanie L.;
Dodson, Arlene N.;
Gentry, Atoska S.;
Griffin, Brenda;
Rolsma, Mark D.;
Baker, Henry J.

Publication type:

Article

Central nervous system inflammation is a hallmark of pathogenesis in mouse models of GM1 and GM2 gangliosidosis.

Published in:

Brain: A Journal of Neurology, 2003, v. 126, n. 4, p. 974

By:

F.M. Platt;
M. Jeyakumar;
R. Thomas;
E. Elliot-Smith;
D.A. Smith;
A.C. van der Spoel;
A. d'Azzo;
V. Hugh Perry;
T.D. Butters;
R.A. Dwek

Publication type:

Article

Morphologische und neurochemische Untersuchungen von 2 Formen der amaurotischen Idiotie des Hundes: Nachweis einer G-Gangliosidose.

Published in:

Acta Neuropathologica, 1970, v. 16, n. 3, p. 243, doi. 10.1007/BF00687364

By:

Bernheimer, H.;
Karbe, E.

Publication type:

Article

A master protocol to investigate a novel therapy acetyl-L-leucine for three ultra-rare neurodegenerative diseases: Niemann-Pick type C, the GM2 gangliosidoses, and ataxia telangiectasia.

Published in:

2021

By:

Fields, T.;
Patterson, M.;
Bremova-Ertl, T.;
Belcher, G.;
Billington, I.;
Churchill, G. C.;
Davis, W.;
Evans, W.;
Flint, S.;
Galione, A.;
Granzer, U.;
Greenfield, J.;
Karl, R.;
Kay, R.;
Lewi, D.;
Mathieson, T.;
Meyer, T.;
Pangonis, D.;
Platt, F. M.;
Tsang, L.

Publication type:

journal article

Magnetic Resonance Findings of the Corpus Callosum in Canine and Feline Lysosomal Storage Diseases.

Published in:

PLoS ONE, 2013, v. 8, n. 12, p. 1, doi. 10.1371/journal.pone.0083455

By:

Hasegawa, Daisuke;
Tamura, Shinji;
Nakamoto, Yuya;
Matsuki, Naoaki;
Takahashi, Kimimasa;
Fujita, Michio;
Uchida, Kazuyuki;
Yamato, Osamu

Publication type:

Article

A possible biomarker of neurocytolysis in infantile gangliosidoses: aspartate transaminase.

Published in:

Metabolic Brain Disease, 2019, v. 34, n. 2, p. 495, doi. 10.1007/s11011-019-0391-y

By:

Kılıç, Mustafa;
Kasapkara, Çiğdem Seher;
Kılavuz, Sebile;
Mungan, Neslihan Önenli;
Biberoğlu, Gürsel

Publication type:

Article

Animal models of GM2 gangliosidosis: utility and limitations.

Published in:

Application of Clinical Genetics, 2016, v. 9, p. 111, doi. 10.2147/TACG.S85354

By:

Lawson, Cheryl A.;
Martin, Douglas R.

Publication type:

Article

GM1 and GM2 gangliosides: recent developments.

Published in:

Biomolecular Concepts, 2014, v. 5, n. 1, p. 87, doi. 10.1515/bmc-2013-0039

By:

Bisel, Blaine;
Pavone, Francesco S.;
Calamai, Martino

Publication type:

Article

Highly phosphomannosylated enzyme replacement therapy for GM2 gangliosidosis.

Published in:

Annals of Neurology, 2011, v. 69, n. 4, p. 691, doi. 10.1002/ana.22262

By:

Tsuji, Daisuke;
Akeboshi, Hiromi;
Matsuoka, Kazuhiko;
Yasuoka, Hiroko;
Miyasaki, Eri;
Kasahara, Yoshiko;
Kawashima, Ikuo;
Chiba, Yasunori;
Jigami, Yoshifumi;
Taki, Takao;
Sakuraba, Hitoshi;
Itoh, Kohji

Publication type:

Article

Identification of Bangladeshi Domestic Cats with GM1 Gangliosidosis Caused by the c.1448G>C Mutation of the Feline GLB1 Gene: Case Study.

Published in:

Journal of Veterinary Medical Science, 2013, v. 75, n. 3, p. 395, doi. 10.1292/jvms.12-0307

By:

Mejbah UDDIN, Mohammad;
Alamgir HOSSAIN, Mohammad;
Mahbubur RAHMAN, Mohammad;
Alam CHOWDHURY, Morshedul;
Takeshi TANIMOTO;
Akira YABUKI;
Keijiro MIZUKAMI;
Hye-Sook CHANG;
Osamu YAMATO

Publication type:

Article

Natural history study of glycan accumulation in large animal models of GM2 gangliosidoses.

Published in:

PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0243006

By:

Cavender, Catlyn;
Mangini, Linley;
Van Vleet, Jeremy L.;
Corado, Carley;
McCullagh, Emma;
Gray-Edwards, Heather L.;
Martin, Douglas R.;
Crawford, Brett E.;
Lawrence, Roger

Publication type:

Article

Neuropathology of Late Onset Gangliosidoses.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 205, doi. 10.1159/000112161

By:

Suzuki, Kinuko

Publication type:

Article

Ashkenazi Jewish population screening for Tay- Sachs disease: The International and Australian experience.

Published in:

Journal of Paediatrics & Child Health, 2015, v. 51, n. 3, p. 271, doi. 10.1111/jpc.12632

By:

Lew, Raelia M;
Burnett, Leslie;
Proos, Anné L;
Barlow‐Stewart, Kristine;
Delatycki, Martin B;
Bankier, Agnes;
Aizenberg, Harry;
Field, Michael J;
Berman, Yemima;
Fleischer, Ronald;
Fietz, Michael

Publication type:

Article

The politics of 'wrongful life' itself: discursive (mal)practices and Tay-Sachs disease.

Published in:

Economy & Society, 2007, v. 36, n. 2, p. 236, doi. 10.1080/03085140701254290

By:

Reuter, Shelley Z.

Publication type:

Article

Ganglioside GM3 promotes HGF-stimulated motility of murine hepatoma cell through enhanced phosphorylation of cMet at specific tyrosine sites and PI3K/Akt-mediated migration signaling.

Published in:

Molecular & Cellular Biochemistry, 2013, v. 382, n. 1/2, p. 83, doi. 10.1007/s11010-013-1720-9

By:

Li, Ying;
Huang, Xiaohua;
Zhong, Weiliang;
Zhang, Jianing;
Ma, Keli

Publication type:

Article

L-Arginine Ameliorates Defective Autophagy in GM2 Gangliosidoses by mTOR Modulation.

Published in:

Cells (2073-4409), 2021, v. 10, n. 11, p. 3122, doi. 10.3390/cells10113122

By:

Castejón-Vega, Beatriz;
Rubio, Alejandro;
Pérez-Pulido, Antonio J.;
Quiles, José L.;
Lane, Jon D.;
Fernández-Domínguez, Beatriz;
Cachón-González, María Begoña;
Martín-Ruiz, Carmen;
Sanz, Alberto;
Cox, Timothy M.;
Alcocer-Gómez, Elísabet;
Cordero, Mario D.

Publication type:

Article

Anti-ganglioside antibodies: experience from the Italian Association of Neuroimmunology external quality assessment scheme.

Published in:

Clinical Chemistry & Laboratory Medicine, 2018, v. 56, n. 11, p. 1921, doi. 10.1515/cclm-2018-0234

By:

Franciotta, Diego;
Gastaldi, Matteo;
Biagioli, Tiziana;
Benedetti, Luana;
Giannotta, Claudia;
Bedin, Roberta;
Zardini, Elisabetta;
Nobile-Orazio, Eduardo

Publication type:

Article

Lysosomal multienzymatic complex-related diseases: a genetic study among Portuguese patients.

Published in:

Clinical Genetics, 2012, v. 81, n. 4, p. 379, doi. 10.1111/j.1399-0004.2011.01625.x

By:

Coutinho, MF;
Lacerda, L;
Macedo-Ribeiro, S;
Baptista, E;
Ribeiro, H;
Prata, MJ;
Alves, S

Publication type:

Article

Clinical and molecular analysis of GM2 gangliosidosis in two apparent littermate kittens of the Japanese domestic cat

Published in:

Journal of Feline Medicine & Surgery, 2007, v. 9, n. 3, p. 232, doi. 10.1016/j.jfms.2006.11.003

By:

Hasegawa, Daisuke;
Yamato, Osamu;
Kobayashi, Masanori;
Fujita, Michio;
Nakamura, Shinichiro;
Takahashi, Kimimasa;
Satoh, Hiroyuki;
Shoda, Toru;
Hayashi, Daisuke;
Yamasaki, Masahiro;
Maede, Yoshimitsu;
Arai, Toshiro;
Orima, Hiromitsu

Publication type:

Article

LATE-ONSET GM2 GANGLIOSIDOSIS PRESENTING AS BURNING DYSESTHESIAS.

Published in:

Journal of the Peripheral Nervous System, 2002, v. 7, n. 1, p. 66, doi. 10.1046/j.1529-8027.2002.2008_8.x

By:

Chow, GCS;
Clarke, JTR;
Banwell, BL

Publication type:

Article

Kazanılmış Becerilerin Kaybı ile Başvuran İki GM2 Gangliosidoz Vakası.

Published in:

Journal of the Child / Çocuk Dergisi, 2011, v. 11, n. 2, p. 94, doi. 10.5222/j.child.2011.094

By:

Ekici, Bariş;
Koyun, Seher;
Çalişkan, Mine

Publication type:

Article

Insights into post-translational processing of β-galactosidase in an animal model resembling late infantile human GM1-gangliosidosis.

Published in:

Journal of Cellular & Molecular Medicine, 2008, v. 12, n. 5a, p. 1661, doi. 10.1111/j.1582-4934.2007.00204.x

By:

Kreutzer, R.;
Kreutzer, M.;
Pröpsting, M. J.;
Sewell, A. C.;
Leeb, T.;
Naim, H. Y.;
Baumgärtner, W.

Publication type:

Article

Identification of a novel GLB1 mutation in a consanguineous Pakistani family affected by rare infantile GM1 gangliosidosis.

Published in:

Journal of Genetics, 2018, v. 97, n. 5, p. 1445, doi. 10.1007/s12041-018-1002-0

By:

Zubaida, Bibi;
Hashmi, Muhammad Almas;
Cheema, Huma Arshad;
Naeem, Muhammad

Publication type:

Article

In-Depth Lipidomic Analysis of Molecular Species of Triacylglycerides, Diacylglycerides, Glycerophospholipids, and Sphingolipids of Buttermilk by GC-MS/FID, HPLC-ELSD, and UPLC-QToF-MS.

Published in:

International Journal of Molecular Sciences, 2017, v. 18, n. 3, p. 605, doi. 10.3390/ijms18030605

By:

Castro-Gómez, Pilar;
Montero, Olimpio;
Fontecha, Javier

Publication type:

Article

Antibodies Against GM1 in Demented Patients.

Published in:

American Journal of Alzheimer's Disease & Other Dementias, 2008, v. 23, n. 3, p. 274, doi. 10.1177/1533317508317816

By:

Hatzifilippou, Eleni;
Koutsouraki, Ephrosini;
Banaki, Tania;
Traka, Maria;
Costa, Vassiliki G.;
Baloyannis, Stavros J.

Publication type:

Article

Identification of 14 novel GLB1 mutations, including five deletions, in 19 patients with GM1 gangliosidosis from South America.

Published in:

Clinical Genetics, 2007, v. 71, n. 3, p. 273, doi. 10.1111/j.1399-0004.2007.00767.x

By:

Santamaria, R.;
Blanco, M.;
Chabás, A.;
Grinberg, D.;
Vilageliu, L.

Publication type:

Article

High frequency of type 1 GM1 gangliosidosis in southern Brazil.

Published in:

Clinical Genetics, 1999, v. 56, n. 2, p. 168, doi. 10.1034/j.1399-0004.1999.560215.x

By:

Severini, Marcia H.A.;
Silva, C.D.;
Sopelsa, A.;
Coelho, J.C.;
Giugliani, R.

Publication type:

Article

Dysembryoplastic Neuroepithelial Tumor of the Brainstem.

Published in:

Neuroradiology Journal, 2008, v. 21, n. 2, p. 209, doi. 10.1177/197140090802100209

By:

Baiamonte, V.;
Piccoli, F.;
La Bella, V.

Publication type:

Article

Ethylenedioxy-PIP2 Oxalate Reduces Ganglioside Storage in Juvenile Sandhoff Disease Mice.

Published in:

Neurochemical Research, 2013, v. 38, n. 4, p. 866, doi. 10.1007/s11064-013-0992-5

By:

Arthur, Julian;
Wilson, Michael;
Larsen, Scott;
Rockwell, Hannah;
Shayman, James;
Seyfried, Thomas

Publication type:

Article

Molecular epidemiology of canine GM1 gangliosidosis in the Shiba Inu breed in Japan: relationship between regional prevalence and carrier frequency.

Published in:

BMC Veterinary Research, 2013, v. 9, n. 1, p. 1, doi. 10.1186/1746-6148-9-132

By:

Mohammad M. Uddin;
Sayaka Arata;
Yukari Takeuchi;
Hye-Sook Chang;
Keijiro Mizukami;
Akira Yabuki;
Mohammad M. Rahman;
Moeko Kohyama;
Hossain, Mohammad A.;
Kenji Takayama;
Osamu Yamato

Publication type:

Article

Meganeurites and The Man.

Published in:

Einstein Journal of Biology & Medicine, 2006, v. 22, n. 2, p. 74

By:

Walkley, Steven U.

Publication type:

Article

Changes in plasma and urine globotriaosylceramide levels do not predict Fabry disease progression over 1 year of agalsidase alfa.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2013, v. 11, n. 4, p. 121
Publication type:: Article

Cytochemical analysis of storage materials in cultured skin fibroblasts from patients with I-cell disease.

Published in:: Current Medical Literature: Lysosomal Storage Disease, 2007, v. 7, n. 2, p. 53
Publication type:: Article

CITATIONS AND CLINICIANS' NOTES: DIAGNOSIS/ BIOCHEMISTRY.

Published in:: 2004
Publication type:: Abstract

Juvenile G-Gangliosidose mit veränderter Substratspezifität der Hexosaminidase A.

Published in:

Acta Neuropathologica, 1974, v. 27, n. 3, p. 225, doi. 10.1007/BF00687632

By:

Zerfowski, J.;
Sandhoff, K.

Publication type:

Article

Three novel beta-galactosidase gene mutations in Han Chinese patients with GM1 gangliosidosis are correlated with disease severity.

Published in:

Journal of Biomedical Science, 2010, v. 17, p. 79, doi. 10.1186/1423-0127-17-79

By:

Chi-Fan Yang;
Jer-Yuarn Wu;
Fuu-Jen Tsai

Publication type:

Article

Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses.

Published in:

Neural Regeneration Research, 2022, v. 17, n. 1, p. 122, doi. 10.4103/1673-5374.314310

By:

Shaimardanova, Alisa A.;
Chulpanova, Daria S.;
Solovyeva, Valeriya V.;
Aimaletdinov, Aleksandr M.;
Rizvanov, Albert A.

Publication type:

Article

Functionality of a bicistronic construction containing HEXA and HEXB genes encoding β-hexosaminidase A for cell-mediated therapy of GM2 gangliosidoses.

Published in:: Neural Regeneration Research, 2021, v. 16, n. 1, p. 122, doi. 10.4103/1673-5374.314310
Publication type:: Article