Works matching DE "GANGLIOSIDOSES"

Results: 69

Expanding the phenotypic spectrum of type III GM1 gangliosidosis: Progressive dystonia with auditory startle.

Published in:

2018

By:

Pillai, Sreeja;
Sundaram, Soumya;
Zafer, Syed;
Rajan, Roopa;
Pillai, Sreeja H;
Zafer, Syed M

Publication type:

Case Study

Letter response: Intra-familial phenotype variability in Late-Onset Tay-Sachs disease.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.756

By:

Riboldi, Giulietta Maria;
Lau, Heather

Publication type:

Article

Late-Onset Tay-Sachs Disease - expanding the clinical phenotype.

Published in:

Tremor & Other Hyperkinetic Movements, 2023, v. 13, p. 1, doi. 10.5334/tohm.750

By:

Lefter, Stela;
Ryan, Aisling M.

Publication type:

Article

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

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

OTHER LYSOSOMAL STORAGE DISEASES.

Published in:

Acta Paediatrica, 2008, p. 119, doi. 10.1111/j.1651-2227.2008.00657_4.x

By:

Caciotti, A.;
Donati, M. A.;
Pasquini, E.;
Carraresi, L.;
D'Azzo, A.;
Dionisi Vici, C.;
Di Rocco, M.;
Parini, R.;
Antuzzi, D.;
Zammarchi, E.;
Guerrini, R.;
Morrone, A.

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

Child neurology.

Published in:: 2006
Publication type:: Abstract

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

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

The leukoencephalopathy of infantile GM1 gangliosidosis: oligodendrocytic loss and axonal dysfunction.

Published in:

Acta Neuropathologica, 2004, v. 107, n. 6, p. 539, doi. 10.1007/s00401-004-0848-9

By:

van der Voorn, J. Patrick;
Kamphorst, Wout;
van der Knaap, Marjo S.;
Powers, James M.

Publication type:

Article

GM1-gangliosidosis in a cross-bred dog confirmed by detection of GM1-ganglioside using electrospray ionisation-tandem mass spectrometry.

Published in:

Acta Neuropathologica, 2000, v. 100, n. 4, p. 409, doi. 10.1007/s004010000187

By:

Whitfield, P.;
Johnson, A. W.;
Dunn, K. A.;
Delauche, A. J. N.;
Winchester, B. G.;
Franklin, R. J. M.

Publication type:

Article

Distribution of enzyme-bearing cells in GM2 gangliosidosis mice: regionally specific pattern of cellular infiltration following bone marrow transplantation.

Published in:

Acta Neuropathologica, 2000, v. 99, n. 2, p. 161, doi. 10.1007/PL00007420

By:

Oya, Yasushi;
Proia, Richard L.;
Norflus, Francine;
Tifft, Cynthia J.;
Langaman, Clarita;
Suzuki, Kinuko

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

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

Impaired Neural Differentiation of Induced Pluripotent Stem Cells Generated from a Mouse Model of Sandhoff Disease.

Published in:

PLoS ONE, 2013, v. 8, n. 1, p. 1, doi. 10.1371/journal.pone.0055856

By:

Ogawa, Yasuhiro;
Tanaka, Makoto;
Tanabe, Miho;
Suzuki, Toshihiro;
Togawa, Tadayasu;
Fukushige, Tomoko;
Kanekura, Takuro;
Sakuraba, Hitoshi;
Oishi, Kazuhiko

Publication type:

Article

Lyso-GM2 Ganglioside: A Possible Biomarker of Tay-Sachs Disease and Sandhoff Disease.

Published in:

PLoS ONE, 2011, v. 6, n. 12, p. 1, doi. 10.1371/journal.pone.0029074

By:

Kodama, Takashi;
Togawa, Tadayasu;
Tsukimura, Takahiro;
Kawashima, Ikuo;
Matsuoka, Kazuhiko;
Kitakaze, Keisuke;
Tsuji, Daisuke;
Itoh, Kohji;
Ishida, Yo-ichi;
Suzuki, Minoru;
Suzuki, Toshihiro;
Sakuraba, Hitoshi

Publication type:

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

GM2 gangliosidosis: the prototype of lysosomal storage disorders.

Published in:

Developmental Medicine & Child Neurology, 2012, v. 54, n. 2, p. 104, doi. 10.1111/j.1469-8749.2011.04163.x

By:

MAEGAWA, GUSTAVO

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

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

Clinical Manifestations of Psychiatric Patients Who Are Carriers of Tay-Sachs Disease.

Published in:

Neuropsychobiology, 2000, v. 41, n. 3, p. 127, doi. 10.1159/000026644

By:

Zelnik;
Khazanov;
Sheinkman;
Karpati;
Peleg

Publication type:

Article

The Genuine Jewish Type: Racial Ideology and Anti-Immigrationism in Early Medical Writing about Tay-Sachs Disease.

Published in:

Canadian Journal of Sociology, 2006, v. 31, n. 3, p. 291, doi. 10.2307/20058712

By:

Reuter, Shelley Z.

Publication type:

Article

Mongolian Spots in the Newborn: Do They Mean Anything?

Published in:

Neonatal Network, 2005, v. 24, n. 1, p. 31, doi. 10.1891/0730-0832.24.1.31

By:

Snow, Timothy M.

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

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

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

Isolated globus pallidi hypointensities in type 2 GM1 gangliosidoses.

Published in:

2017

By:

Kamate, Mahesh;
Mittal, Nishant

Publication type:

journal article

Mutation analyses in 17 patients with deficiency in acid β-galactosidase: three novel point mutations and high correlation of mutation W273L with Morquio disease type B.

Published in:

Human Genetics, 2001, v. 109, n. 2, p. 159, doi. 10.1007/s004390100570

By:

Paschke, Eduard;
Milos, Ivica;
Kreimer-Erlacher, Heidemarie;
Hoefler, Gerald;
Beck, Michael;
Hoeltzenbein, Maria;
Kleijer, Wim;
Levade, Thierry;
Michelakakis, Helen;
Radeva, B.

Publication type:

Article

Sandhoff disease in Cyprus: population screening by biochemical and DNA analysis indicates a high frequency of carriers in the Maronite community.

Published in:

Human Genetics, 2000, v. 107, n. 1, p. 12, doi. 10.1007/s004390050003

By:

Drousiotou, Anthi;
Stylianidou, Goula;
Anastasiadou, Violetta;
Christopoulos, George;
Mavrikiou, Eleni;
Georgiou, Theodoros;
Kalakoutis, Gabriel;
Oladimeji, Adebayo;
Hara, Yoji;
Suzuki, Kunihiko;
Furihata, Kenichi;
Ueno, Ichiro;
Ioannou, Panayiotis A.;
Fensom, Anthony H.

Publication type:

Article

A Duplication in the Canine ²-Galactosidase Gene GLB1 Causes Exon Skipping and GM1-Gangliosidosis in Alaskan Huskies.

Published in:

Genetics, 2005, v. 170, n. 4, p. 1857, doi. 10.1534/genetics.105.042580

By:

Kreutzer, Robert;
Leeb, Tosso;
Müller, Gundi;
Moritz, Andreas;
Baumgartner, Wolfgang

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

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

GM1 GANGLIOZIDOZA - PRIKAZ SLUČAJA.

Published in:

Medical Review / Medicinski Pregled, 2010, v. 63, n. 5/6, p. 427, doi. 10.2298/MPNS1006427O

By:

OBRADOVIĆ, Slobodan;
LABAN, Olivera;
IGRUTINOVIĆ, Zoran;
VULETIĆ, Biljana;
VUJIĆ, Ana;
ĐINĐIĆ, Jasmina

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

Protein modeling and clinical description of a novel in‐frame GLB1 deletion causing GM1 gangliosidosis type II.

Published in:

Molecular Genetics & Genomic Medicine, 2018, v. 6, n. 6, p. 1229, doi. 10.1002/mgg3.454

By:

Richter, John E.;
Zimmermann, Michael T.;
Blackburn, Patrick R.;
Mohammad, Ahmed N.;
Klee, Eric W.;
Pollard, Laura M.;
Macmurdo, Colleen F.;
Atwal, Paldeep S.;
Caulfield, Thomas 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

Tomoregulin-2 is found extensively in plaques in Alzheimer's disease brain.

Published in:

Journal of Neurochemistry, 2006, v. 98, n. 1, p. 34, doi. 10.1111/j.1471-4159.2006.03801.x

By:

Siegel, Donald A.;
Davies, Peter;
Dobrenis, Kostantin;
Huang, May

Publication type:

Article

PTW06 Poster Session 15 - Parkinson's and Other Diseases.

Published in:: 2006
Publication type:: Other

N -butyldeoxygalactonojirimycin reduces neonatal brain ganglioside content in a mouse model of GM1 gangliosidosis.

Published in:

Journal of Neurochemistry, 2004, v. 89, n. 3, p. 645, doi. 10.1046/j.1471-4159.2004.02381.x

By:

Kasperzyk, Julie L.;
El-Abbadi, Mohga M.;
Hauser, Eric C.;
d'Azzo, Alessandra;
Platt, Frances M.;
Seyfried, Thomas N.

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

Wrinklefree and deadly: BoNTs.

Published in:

Nature Reviews Neuroscience, 2007, v. 8, n. 2, p. 88, doi. 10.1038/nrn2085

By:

Wiedemann, Claudia

Publication type:

Article

Cholera toxin binds to lipid rafts but has a limited specificity for ganglioside GM1.

Published in:

Immunology & Cell Biology, 2007, v. 85, n. 5, p. 378, doi. 10.1038/sj.icb.7100045

By:

Blank, Norbert;
Schiller, Martin;
Krienke, Stefan;
Wabnitz, Guido;
Ho, Anthony D.;
Lorenz, Hanns-Martin

Publication type:

Article

Understanding Tay-Sachs Disease.

Published in:

Clinical Pediatrics, 1966, v. 5, n. 11, p. 653, doi. 10.1177/000992286600501104

By:

Volk, Bruno W.

Publication type:

Article

ST3GAL5-Related Disorders: A Deficiency in Ganglioside Metabolism and a Genetic Cause of Intellectual Disability and Choreoathetosis.

Published in:

2018

By:

Gordon-Lipkin, Eliza;
Cohen, Julie S.;
Srivastava, Siddharth;
Soares, Bruno P.;
Levey, Eric;
Fatemi, Ali

Publication type:

Case Study

Extensive and unusual Mongolian blue spots in a child with GM1 gangliosidosis type one.

Published in:

1992

By:

Beattie, R. M.;
Harvey, D.

Publication type:

Report

Lysosomal accumulation of Trk protein in brain of GM1-gangliosidosis mouse and its restoration by chemical chaperone.

Published in:

Journal of Neurochemistry, 2011, v. 118, n. 3, p. 399, doi. 10.1111/j.1471-4159.2011.07310.x

By:

Takamura, Ayumi;
Higaki, Katsumi;
Ninomiya, Haruaki;
Takai, Tomoko;
Matsuda, Junichiro;
Iida, Masami;
Ohno, Kousaku;
Suzuki, Yoshiyuki;
Nanba, Eiji

Publication type:

Article

Mechanism of abnormal growth in astrocytes derived from a mouse model of GM2 gangliosidosis.

Published in:

Journal of Neurochemistry, 2009, v. 111, n. 4, p. 1031, doi. 10.1111/j.1471-4159.2009.06391.x

By:

Kawashima, Nagako;
Tsuji, Daisuke;
Okuda, Tetsuya;
Itoh, Kohji;
Nakayama, Ken-ichi

Publication type:

Article

White matter changes in GM1 gangliosidosis.

Published in:

Indian Pediatrics, 2015, v. 52, n. 2, p. 155, doi. 10.1007/s13312-015-0593-2

By:

Tuteja, Moni;
Bidchol, Abdul;
Girisha, Katta;
Phadke, Shubha

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