Works matching GM1 gangliosidosis

Results: 199

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

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

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

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

Rapid detection of GM1 ganglioside in cerebrospinal fluid in dogs with GM1 gangliosidosis using matrix-assisted laser desorption ionization time-of-flight mass spectrometry.

Published in:

Journal of Veterinary Diagnostic Investigation, 2011, v. 23, n. 6, p. 1202, doi. 10.1177/1040638711425592

By:

Satoh, Hiroyuki;
Yamauchi, Toyofumi;
Yamasaki, Masahiro;
Maede, Yoshimitsu;
Yabuki, Akira;
Hye-Sook Chang;
Asanuma, Taketoshi;
Yamato, Osamu

Publication type:

Article

Retrospective assessment of clinical global impression of severity and change in GM1 gangliosidosis: a tool to score natural history data in rare disease cohorts.

Published in:

Orphanet Journal of Rare Diseases, 2025, v. 20, n. 1, p. 1, doi. 10.1186/s13023-025-03614-6

By:

Lewis, Connor J.;
Johnston, Jean M.;
Zaragoza Domingo, Silvia;
Vezina, Gilbert;
D'Souza, Precilla;
Gahl, William A.;
Adams, David A.;
Tifft, Cynthia J.;
Acosta, Maria T.

Publication type:

Article

Insights into the Pathobiology of GM1 Gangliosidosis from Single-Nucleus Transcriptomic Analysis of CNS Cells in a Mouse Model.

Published in:

International Journal of Molecular Sciences, 2024, v. 25, n. 17, p. 9712, doi. 10.3390/ijms25179712

By:

Liu, Sichi;
Xie, Ting;
Huang, Yonglan

Publication type:

Article

Fluorescent In Situ Staining and Flow Cytometric Procedures as New Pre-Diagnostic Tests for Sialidosis, GM1 Gangliosidosis and Niemann–Pick Type C.

Published in:

Biomedicines, 2022, v. 10, n. 8, p. N.PAG, doi. 10.3390/biomedicines10081962

By:

Capitini, Claudia;
Feo, Federica;
Caciotti, Anna;
Tonin, Rodolfo;
Lulli, Matteo;
Coviello, Domenico;
Guerrini, Renzo;
Calamai, Martino;
Morrone, Amelia

Publication type:

Article

Carrier Rate and Mutant Allele Frequency of GM1 Gangliosidosis in Miniature Shiba Inus (Mame Shiba): Population Screening of Breeding Dogs in Japan.

Published in:

Animals (2076-2615), 2022, v. 12, n. 10, p. 1242, doi. 10.3390/ani12101242

By:

Pervin, Shahnaj;
Islam, Md Shafiqul;
Yorisada, Yamato;
Sakai, Aya;
Masamune, Shimma;
Yabuki, Akira;
Rakib, Tofazzal Md;
Maki, Shinichiro;
Tacharina, Martia Rani;
Yamato, Osamu

Publication type:

Article

Phenotype determining alleles in GM1 gangliosidosis patients bearing novel GLB1 mutations.

Published in:

Clinical Genetics, 2010, v. 78, n. 3, p. 236, doi. 10.1111/j.1399-0004.2010.01379.x

By:

Hofer, D.;
Paul, K.;
Fantur, K.;
Beck, M.;
Roubergue, A.;
Vellodi, A.;
Poorthuis, B. J.;
Michelakakis, H.;
Plecko, B.;
Paschke, E.

Publication type:

Article

Identification of a novel pseudodeficiency allele in the GLB1 gene in a carrier of GM1 gangliosidosis.

Published in:

Clinical Genetics, 2007, v. 72, n. 2, p. 109, doi. 10.1111/j.1399-0004.2007.00843.x

By:

Gort, L.;
Santamaria, R.;
Grinberg, D.;
Vilageliu, L.;
Chabás, A.

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

Intravenous delivery of adeno-associated viral gene therapy in feline GM1 gangliosidosis.

Published in:

2022

By:

Gross, Amanda L;
Gray-Edwards, Heather L;
Bebout, Cassie N;
Ta, Nathan L;
Nielsen, Kayly;
Brunson, Brandon L;
Mercado, Kalajan R Lopez;
Osterhoudt, Devin E;
Batista, Ana Rita;
Maitland, Stacy;
Seyfried, Thomas N;
Sena-Esteves, Miguel;
Martin, Douglas R;
Lopez Mercado, Kalajan R

Publication type:

journal article

Creation of an in vitro model of GM1 gangliosidosis by CRISPR/Cas9 knocking‐out the GLB1 gene in SH‐SY5Y human neuronal cell line.

Published in:

Cell Biochemistry & Function, 2024, v. 42, n. 6, p. 1, doi. 10.1002/cbf.4102

By:

Hosseini, Kamran;
Fallahi, Jafar;
Aligholi, Hadi;
Heidari, Zahra;
Nadimi, Elham;
Safari, Fatemeh;
Sisakht, Mohsen;
Atapour, Amir;
Khajeh, Sahar;
Tabei, Seyed Mohammad Bagher;
Razban, Vahid

Publication type:

Article

Gene therapy approaches for GM1 gangliosidosis: Focus on animal and cellular studies.

Published in:

Cell Biochemistry & Function, 2023, v. 41, n. 8, p. 1093, doi. 10.1002/cbf.3887

By:

Hosseini, Kamran;
Fallahi, Jafar;
Tabei, Seyed M. B.;
Razban, Vahid

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

A lysosomal storage disease of Romney sheep that resembles human type 3 GM1 gangliosidosis.

Published in:

Acta Neuropathologica, 2001, v. 101, n. 3, p. 225, doi. 10.1007/s004010000267

By:

Ryder, S. J.;
Simmons, M. M.

Publication type:

Article

Case report: Preimplantation genetic testing for infantile GM1 gangliosidosis.

Published in:

Frontiers in Genetics, 2024, p. 1, doi. 10.3389/fgene.2024.1344051

By:

Zagaynova, Valeria A.;
Nasykhova, Yulia A.;
Tonyan, Ziravard N.;
Danilova, Maria M.;
Dvoynova, Natalya M.;
Lazareva, Tatyana E.;
Ivashchenko, Tatyana E.;
Shabanova, Elena S.;
Krikheli, Inna O.;
Lesik, Elena A.;
Bespalova, Olesya N.;
Kogan, Igor Yu.;
Glotov, Andrey S.

Publication type:

Article

A computational approach to analyse the amino acid variants of GLB1 protein causing GM1 Gangliosidosis.

Published in:

Metabolic Brain Disease, 2021, v. 36, n. 3, p. 499, doi. 10.1007/s11011-020-00650-y

By:

Priyanka, K.;
Madhana Priya, N.;
Magesh, R.

Publication type:

Article

Clinical and molecular characteristics of 11 Chinese probands with GM1 gangliosidosis.

Published in:

Metabolic Brain Disease, 2018, v. 33, n. 6, p. 2051, doi. 10.1007/s11011-018-0315-2

By:

Feng, Yuyu;
Huang, Yonglan;
Zhao, Xiaoyuan;
Sheng, Huiying;
Feng, Yi;
Zhang, Wen;
Liu, Li

Publication type:

Article

GM1 GANGLIOSIDOSIS ASSOCIATED WITH NEONATAL-ONSET OF DIFFUSE ECCHYMOSES AND MONGOLIAN SPOTS.

Published in:

Indian Journal of Dermatology, 2011, v. 56, n. 1, p. 98, doi. 10.4103/0019-5154.77567

By:

Dweikat, Imad;
Libdeh, Bassam Abu;
Murrar, Hanadi;
Khalil, Samir;
Maraqa, Nizar

Publication type:

Article

An autopsy case of GM1 gangliosidosis type II in a patient who survived a long duration with artificial respiratory support.

Published in:

Neuropathology, 2020, v. 40, n. 4, p. 379, doi. 10.1111/neup.12651

By:

Uchino, Akiko;
Nagai, Makiko;
Kanazawa, Naomi;
Ichinoe, Masaaki;
Yanagisawa, Nobuyuki;
Adachi, Kaori;
Nanba, Eiji;
Ishiura, Hiroyuki;
Mitsui, Jun;
Tsuji, Shoji;
Suzuki, Kinuko;
Murayama, Shigeo;
Nishiyama, Kazutoshi

Publication type:

Article

Synthesis of a New β-Galactosidase Inhibitor Displaying Pharmacological Chaperone Properties for GM1 Gangliosidosis.

Published in:

Molecules, 2022, v. 27, n. 13, p. 4008, doi. 10.3390/molecules27134008

By:

Clemente, Francesca;
Martínez-Bailén, Macarena;
Matassini, Camilla;
Morrone, Amelia;
Falliano, Silvia;
Caciotti, Anna;
Paoli, Paolo;
Goti, Andrea;
Cardona, Francesca

Publication type:

Article

A GM1 gangliosidosis mutant mouse model exhibits activated microglia and disturbed autophagy.

Published in:

Experimental Biology & Medicine, 2021, v. 246, n. 11, p. 1330, doi. 10.1177/1535370221993052

By:

Liu, Sichi;
Feng, Yuyu;
Huang, Yonglan;
Jiang, Xiaoling;
Tang, Chengfang;
Tang, Fang;
Zeng, Chunhua;
Liu, Li

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

Pathological findings of central nervous system, two GM1 gangliosidosis autopsy cases.

Published in:

Turkish Journal of Pediatrics, 2019, v. 61, n. 6, p. 953, doi. 10.24953/turkjped.2019.06.020

By:

Özdemir Kara, Doğuş;
Şahpaz, Ahmet

Publication type:

Article

Substrate reduction therapy with Miglustat in pediatric patients with GM1 type 2 gangliosidosis delays neurological involvement: A multicenter experience.

Published in:

Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 10, p. 1, doi. 10.1002/mgg3.1371

By:

Fischetto, Rita;
Palladino, Valentina;
Mancardi, Maria M.;
Giacomini, Thea;
Palladino, Stefano;
Gaeta, Alberto;
Di Rocco, Maja;
Zampini, Lucia;
Lassandro, Giuseppe;
Favia, Vito;
Tripaldi, Maria E.;
Strisciuglio, Pietro;
Romano, Alfonso;
Severino, Mariasavina;
Morrone, Amelia;
Giordano, Paola

Publication type:

Article

Evaluation of the Landscape of Pharmacodynamic Biomarkers in GM1 and GM2 Gangliosidosis.

Published in:

CTS: Clinical & Translational Science, 2025, v. 18, n. 3, p. 1, doi. 10.1111/cts.70176

By:

Stern, Sydney;
Crisamore, Karryn;
Li, Ruo‐Jing;
Pacanowski, Michael;
Schuck, Robert

Publication type:

Article

Maternal Uniparental Isodisomy Causing Autosomal Recessive GM1 Gangliosidosis: A Clinical Report.

Published in:

Journal of Genetic Counseling, 2014, v. 23, n. 5, p. 734, doi. 10.1007/s10897-014-9720-9

By:

King, Jessica;
Dexter, Amy;
Gadi, Inder;
Zvereff, Val;
Martin, Meaghan;
Bloom, Miriam;
Vanderver, Adeline;
Pizzino, Amy;
Schmidt, Johanna

Publication type:

Article

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

GM1 Gangliosidosis: Mechanisms and Management.

Published in:

Application of Clinical Genetics, 2021, v. 14, p. 209, doi. 10.2147/TACG.S206076

By:

Rha, Allisandra K;
Maguire, Anne S;
Martin, Douglas R

Publication type:

Article

GM1 Gangliosidosis—A Mini-Review.

Published in:

Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.734878

By:

Nicoli, Elena-Raluca;
Annunziata, Ida;
d'Azzo, Alessandra;
Platt, Frances M.;
Tifft, Cynthia J.;
Stepien, Karolina M.

Publication type:

Article

Structural bases of GM1 gangliosidosis and Morquio B disease.

Published in:

Journal of Human Genetics, 2009, v. 54, n. 9, p. 510, doi. 10.1038/jhg.2009.70

By:

Morita, Mizuki;
Saito, Seiji;
Ikeda, Kazuyoshi;
Ohno, Kazuki;
Sugawara, Kanako;
Suzuki, Toshihiro;
Togawa, Tadayasu;
Sakuraba, Hitoshi

Publication type:

Article

Gangliozidóza GM1 asociovaná s mnohopočetnými mongolskými škvrnami.

Published in:

Czecho-Slovak Pediatrics / Česko-Slovenská Pediatrie, 2012, v. 67, n. 4, p. 242

By:

Urbanová, V.;
Behunová, J.;
Petrovič, R.;
Podracká, L.

Publication type:

Article

A novel human model of the neurodegenerative disease GM1 gangliosidosis using induced pluripotent stem cells demonstrates inflammasome activation.

Published in:

Journal of Pathology, 2015, v. 237, n. 1, p. 98, doi. 10.1002/path.4551

By:

Son, Mi‐Young;
Kwak, Jae Eun;
Seol, Binna;
Lee, Da Yong;
Jeon, Hyejin;
Cho, Yee Sook

Publication type:

Article

Eyeing the spots and the spot in the eye: GM1 gangliosidosis.

Published in:

Journal of Pediatric Neurosciences, 2022, v. 17, n. 1, p. 85, doi. 10.4103/jpn.JPN_173_20

By:

Samprathi, Madhusudan;
Saraogi, Sujata;
Kar, Subhashree;
Das, Rashmi

Publication type:

Article

Therapeutic developments for neurodegenerative GM1 gangliosidosis.

Published in:

Frontiers in Neuroscience, 2024, p. 01, doi. 10.3389/fnins.2024.1392683

By:

Foster, Dorian;
Williams, Lucian;
Arnold, Noah;
Larsen, Jessica

Publication type:

Article

An autopsy case of infantile GM1 gangliosidosis with adrenal calcification.

Published in:

Metabolic Brain Disease, 2011, v. 26, n. 4, p. 307, doi. 10.1007/s11011-011-9258-6

By:

Nada, Ritambhra;
Gupta, Kirti;
Lal, Sadhna;
Vasishta, Rakesh

Publication type:

Article

Gangliosidosis GM1: a propósito de un caso clínico.

Published in:

Universitas Médica, 2015, v. 56, n. 3, p. 366

By:

LONDOÑO C., JUAN PABLO;
ESPINOSA GARCÍA, EUGENIA;
ECHEVERRI PEÑA, OLGA YANETH;
ARDILA, YUDY ANDREA;
BARRERA A., LUIS ALEJANDRO

Publication type:

Article

Rapid Identification of New Biomarkers for the Classification of GM1 Type 2 Gangliosidosis Using an Unbiased 1 H NMR-Linked Metabolomics Strategy.

Published in:

Cells (2073-4409), 2021, v. 10, n. 3, p. 572, doi. 10.3390/cells10030572

By:

Percival, Benita C.;
Latour, Yvonne L.;
Tifft, Cynthia J.;
Grootveld, Martin;
Tikkanen, Ritva

Publication type:

Article

Enzyme replacement using liposome carriers in feline GM1 gangliosidosis fibroblasts.

Published in:

Nature, 1978, v. 275, n. 5682, p. 754, doi. 10.1038/275754a0

By:

REYNOLDS, G. D.;
BAKER, H. J.;
REYNOLDS, R. H.

Publication type:

Article

Dermal melanocytosis as a sign of GM1 gangliosidosis.

Published in:

European Journal of Pediatric Dermatology, 2024, v. 34, n. 1, p. 12

By:

de Moura H., Macêdo;
Costa V., Lira da Câmara;
Queiroz M. C., Araujo Palmeira;
J. P., Ribeiro Junior;
Lima P., Melo de Oliveira

Publication type:

Article

Single Institutional Experience with GM1 Gangliosidosis: Clinical and Laboratory Results of 14 Patients.

Published in:

Balkan Medical Journal, 2022, v. 39, n. 5, p. 345, doi. 10.4274/balkanmedj.galenos.2022.2022-3-75

By:

Akar, Halil Tuna;
Yıldız, Yılmaz;
Güvenkaya, Gökhan;
Çıkı, Kısmet;
Kahraman, Ayşe Burcu;
Erdal, İzzet;
Coşkun, Turgay;
Dursun, Ali;
Sivri, Hatice Serap;
Tokatlı, Ayşegül

Publication type:

Article

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

Report of an infant with GM1 gangliosidosis type I and extensive and unusual mongolian spots.

Published in:

British Journal of Dermatology, 1981, v. 104, n. 2, p. 195, doi. 10.1111/j.1365-2133.1981.tb00045.x

By:

Weissbluth, Marc;
Esterly, Nancy B.;
Caro, William A.

Publication type:

Article

Mongolian spots in a sick patient—A diagnosis of infantile GM1 gangliosidosis.

Published in:

Australasian Journal of Dermatology, 2023, v. 64, n. 4, p. 553, doi. 10.1111/ajd.14146

By:

Truong, Kelvin;
Fong, Gloria;
Lewis, Katherine;
Moghimi, Ali;
Prasad, Archana;
Hogan, Peter

Publication type:

Article

Pre-diagnosing and managing patients with GM1 gangliosidosis and related disorders by the evaluation of GM1 ganglioside content.

Published in:

Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53995-5

By:

Tonin, Rodolfo;
Caciotti, Anna;
Procopio, Elena;
Fischetto, Rita;
Deodato, Federica;
Mancardi, Maria Margherita;
Di Rocco, Maja;
Ardissone, Anna;
Salviati, Alessandro;
Marangi, Antonio;
Strisciuglio, Pietro;
Mangone, Giusi;
Casini, Arianna;
Ricci, Silvia;
Fiumara, Agata;
Parini, Rossella;
Pavone, Francesco Saverio;
Guerrini, Renzo;
Calamai, Martino;
Morrone, Amelia

Publication type:

Article

Mutation analysis of GM1 gangliosidosis in a Siamese cat from Japan in the 1960s.

Published in:

Journal of Feline Medicine & Surgery, 2012, v. 14, n. 12, p. 900, doi. 10.1177/1098612X12454120

By:

Uddin, Mohammad M;
Tanimoto, Takeshi;
Yabuki, Akira;
Kotani, Takao;
Kuwamura, Mitsuru;
Chang, Hye-Sook;
Yamato, Osamu

Publication type:

Article

Modulating action of the new polymorphism L436F detected in the GLB1 gene of a type-II GM1 gangliosidosis patient.

Published in:

Human Genetics, 2003, v. 113, n. 1, p. 44, doi. 10.1007/s00439-003-0930-8

By:

Caciotti, Anna;
Bardelli, Tiziana;
Cunningham, John;
D'Azzo, Alessandra;
Zammarchi, Enrico;
Morrone, Amelia

Publication type:

Article

Systemic AAV9 gene transfer in adult GM1 gangliosidosis mice reduces lysosomal storage in CNS and extends lifespan.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 15, p. 4353, doi. 10.1093/hmg/ddv168

By:

Weismann, Cara M.;
Ferreira, Jennifer;
Keeler, Allison M.;
Qin Su;
Linghua Qui;
Shaffer, Scott A.;
Zuoshang Xu;
Guangping Gao;
Sena-Esteves, Miguel

Publication type:

Article