Works matching Globoid cell leukodystrophy

Results: 316

Altered Trafficking and Processing of GALC Mutants Correlates with Globoid Cell Leukodystrophy Severity.

Published in:

Journal of Neuroscience, 2016, v. 36, n. 6, p. 1858, doi. 10.1523/JNEUROSCI.3095-15.2016

By:

Shin, Daesung;
Feltri, M. Laura;
Wrabetz, Lawrence

Publication type:

Article

Mechanism-Based Combination Treatment Dramatically Increases Therapeutic Efficacy in Murine Globoid Cell Leukodystrophy.

Published in:

Journal of Neuroscience, 2015, p. 6495, doi. 10.1523/JNEUROSCI.4199-14.2015

By:

Hawkins-Salsbury, Jacqueline A.;
Shea, Lauren;
Xuntian Jiang;
Hunter, Daniel A.;
Guzman, A. Miguel;
Reddy, Adarsh S.;
Qin, Elizabeth Y.;
Li, Yedda;
Gray, Steven J.;
Ory, Daniel S.;
Sands, Mark S.

Publication type:

Article

Globoid Cell Leukodystrophy (Krabbe Disease).

Published in:

Iranian Journal of Child Neurology, 2014, v. 8, n. 4, p. 14

By:

TAVASOLI, Azita

Publication type:

Article

Globoid cell leukodystrophy (Krabbe disease) in a Merino sheep.

Published in:

Journal of Veterinary Diagnostic Investigation, 2019, v. 31, n. 1, p. 118, doi. 10.1177/1040638718806685

By:

Lee, Effie;
Fuller, Maria;
Carr, Mandi;
Manavis, Jim;
Finnie, John

Publication type:

Article

Multipotent Stromal Cells Alleviate Inflammation, Neuropathology, and Symptoms Associated with Globoid Cell Leukodystrophy in the Twitcher Mouse.

Published in:

Stem Cells, 2013, v. 31, n. 8, p. 1523, doi. 10.1002/stem.1397

By:

Scruggs, Brittni A.;
Zhang, Xiujuan;
Bowles, Annie C.;
Gold, Peter A.;
Semon, Julie A.;
Fisher-Perkins, Jeanne M.;
Zhang, Shijia;
Bonvillain, Ryan W.;
Myers, Leann;
Li, Su Chen;
Kalueff, Allan V.;
Bunnell, Bruce A.

Publication type:

Article

Allogeneic bone marrow transplantation for infantile globoid-cell leukodystrophy (Krabbe's disease).

Published in:

Pediatric Transplantation, 2002, v. 6, n. 5, p. 427, doi. 10.1034/j.1399-3046.2002.02026.x

By:

Caniglia, Maurizio;
Rana, Ippolita;
Pinto, Rita Maria;
Fariello, Giuseppe;
Caruso, Roberta;
Angioni, Adriano;
Dionisi Vici, Carlo;
Sabetta, Gaetano;
De Rossi, Giulio

Publication type:

Article

Inhibition of angiogenesis by β-galactosylceramidase deficiency in globoid cell leukodystrophy.

Published in:

Brain: A Journal of Neurology, 2013, v. 136, n. 9, p. 2859, doi. 10.1093/brain/awt215

By:

Belleri, Mirella;
Ronca, Roberto;
Coltrini, Daniela;
Nico, Beatrice;
Ribatti, Domenico;
Poliani, Pietro L.;
Giacomini, Arianna;
Alessi, Patrizia;
Marchesini, Sergio;
Santos, Marta B.;
Bongarzone, Ernesto R.;
Presta, Marco

Publication type:

Article

Globoid Cell Leukodystrophy (Krabbe's Disease): Update.

Published in:

Journal of Child Neurology, 2003, v. 18, n. 9, p. 595, doi. 10.1177/08830738030180090201

By:

Suzuki, Kunihiko

Publication type:

Article

Central Nervous System Pathology Progresses Independently of KC and CXCR2 in Globoid-Cell Leukodystrophy.

Published in:

PLoS ONE, 2013, v. 8, n. 6, p. 1, doi. 10.1371/journal.pone.0064647

By:

Reddy, Adarsh S.;
Patel, Jigisha R.;
Vogler, Carole;
Klein, Robyn S.;
Sands, Mark S.

Publication type:

Article

Single-dose intracerebroventricular administration of galactocerebrosidase improves survival in a mouse model of globoid cell leukodystrophy.

Published in:

FASEB Journal, 2007, v. 21, n. 10, p. 2520, doi. 10.1096/fj.06-6169com

By:

Wing C. Lee;
Yuen K. Tsoi;
Troendle, Frederick J.;
DeLucia, Michael W.;
Ahmed, Zeshan;
Dicky, Chad A.;
Dickson, Dennis W.;
Eckman, Christopher B.

Publication type:

Article

Enzyme replacement therapy results in substantial improvements in early clinical phenotype in a mouse model of globoid cell leukodystrophy.

Published in:

FASEB Journal, 2005, v. 19, n. 11, p. 1549, doi. 10.1096/fj.05-3826fje

By:

Lee, Wing C.;
Courtenay, Andrew;
Troendle, Frederick J.;
Stallings-Mann, Melody L.;
Dickey, Chad A.;
DeLucia, Michael W.;
Dickson, Dennis W.;
Eckman, Christopher B.

Publication type:

Article

Globoid Cell Leukodystrophy in Cairn and West Highland White Terriers.

Published in:

Journal of Heredity, 1999, v. 90, n. 1, p. 138, doi. 10.1093/jhered/90.1.138

By:

Wenger, D.A.;
Victoria, T.

Publication type:

Article

A mutation in the saposin A domain of the sphingolipid activator protein (prosaposin) gene results in a late-onset, chronic form of globoid cell leukodystrophy in the mouse.

Published in:

Human Molecular Genetics, 2001, v. 10, n. 11, p. 1191, doi. 10.1093/hmg/10.11.1191

By:

Matsuda, Junko;
Vanier, Marie T.;
Saito, Yuko;
Tohyama, Jun;
Suzuki, Kinuko;
Suzuki, Kunihiko

Publication type:

Article

Effects of Irradiation on the Postnatal Development of the Brain in a Genetic Mouse Model of Globoid Cell Leukodystrophy.

Published in:

Neurochemical Research, 2007, v. 32, n. 2, p. 377, doi. 10.1007/s11064-006-9247-z

By:

Francesca Galbiati;
Giulia Clementi;
Daniela Superchi

Publication type:

Article

Region- and age-dependent alterations of glial-neuronal metabolic interactions correlate with CNS pathology in a mouse model of globoid cell leukodystrophy.

Published in:

Journal of Cerebral Blood Flow & Metabolism, 2013, v. 33, n. 7, p. 1127, doi. 10.1038/jcbfm.2013.64

By:

Meisingset, Tore Wergeland;
Ricca, Alessandra;
Neri, Margherita;
Sonnewald, Ursula;
Gritti, Angela

Publication type:

Article

888. Characterization of New Murine Models of Globoid Cell Leukodystrophy: Relevance for Gene Therapy Applications and Studies on Disease Pathogenesis.

Published in:

Molecular Therapy, 2006, v. 13, p. S342, doi. 10.1016/j.ymthe.2006.08.977

By:

Visigalli, Ilaria;
del Carro, Ubaldo;
Politi, Letterio;
Quattrini, Angelo;
Luzi, Paola;
Wenger, David;
Naldini, Luigi;
Biffi, Alessandra

Publication type:

Article

212. Delivery of Galactocerebrosidase Activity to the Peripheral Nervous System of Mice with Globoid Cell Leukodystrophy (Krabbe Disease) by Intramuscular Injection.

Published in:

Molecular Therapy, 2006, v. 13, p. S82, doi. 10.1016/j.ymthe.2006.08.237

By:

Rafi, Mohammad A.;
Zhi Rao, Han;
Luzi, Paola;
Curtis, Mark T.;
Wenger, David A.

Publication type:

Article

424. Intracranial AAV5 Synergizes with Non-Myeloablative Bone Marrow Transplantation in the Murine Model of Globoid-Cell Leukodystrophy

Published in:

2005

By:

Lin, Darshong;
Donsante, Anthony;
Macauley, Shannon;
Levy, Beth;
Vogler, Carole;
Sands, Mark

Publication type:

Abstract

AAV-Mediated expression of galactocerebrosidase in brain results in attenuated symptoms and extended life span in murine models of globoid cell leukodystrophy

Published in:

Molecular Therapy, 2005, v. 11, n. 5, p. 734, doi. 10.1016/j.ymthe.2004.12.020

By:

Rafi, Mohammad A.;
Zhi Rao, Han;
Passini, Marco A.;
Curtis, Mark;
Vanier, Marie T.;
Zaka, Mariam;
Luzi, Paola;
Wolfe, John H.;
Wenger, David A.

Publication type:

Article

Optic Nerve Enlargement Associated with Globoid Cell Leukodystrophy.

Published in:: Canadian Journal of Neurological Sciences, 2006, v. 33, n. 2, p. 235, doi. 10.1017/S0317167100005047
Publication type:: Article

Juvenile onset globoid cell leukodystrophy masquerading as XL-adrenoleukodystrophy.

Published in:

Journal of Paediatrics & Child Health, 2008, v. 44, n. 7/8, p. 459, doi. 10.1111/j.1440-1754.2008.01340.x

By:

Srinivasan, Jayasri;
Coleman, Lee;
Kornberg, Andrew J.

Publication type:

Article

Transplantation of mouse embryonic stem cell-derived oligodendrocytes in the murine model of globoid cell leukodystrophy.

Published in:

Stem Cell Research & Therapy, 2015, v. 6, n. 1, p. 1, doi. 10.1186/s13287-015-0024-2

By:

Xiao Ling Kuai;
Run Zhou Ni;
Guo Xiong Zhou;
Zheng Biao Mao;
Jian Feng Zhang;
Nan Yi;
Zhao Xiu Liu;
Nan Shao;
Wen Kai Ni;
Zhi Wei Wang

Publication type:

Article

Neural Stem Cell Gene Therapy Ameliorates Pathology and Function in a Mouse Model of Globoid Cell Leukodystrophy.

Published in:

Stem Cells, 2011, v. 29, n. 10, p. 1559, doi. 10.1002/stem.701

By:

Neri, Margherita;
Ricca, Alessandra;
di Girolamo, Ilaria;
Alcala'-Franco, Beatriz;
Cavazzin, Chiara;
Orlacchio, Aldo;
Martino, Sabata;
Naldini, Luigi;
Gritti, Angela

Publication type:

Article

Bone Marrow Transplantation Augments the Effect of Brain- and Spinal Cord-Directed Adeno-Associated Virus 2/5 Gene Therapy by Altering Inflammation in the Murine Model of Globoid-Cell Leukodystrophy.

Published in:

Journal of Neuroscience, 2011, v. 31, n. 27, p. 9945, doi. 10.1523/JNEUROSCI.1802-11.2011

By:

Reddy, Adarsh S.;
Kim, Joong H.;
Hawkins-Salsbury, Jacqueline A.;
Macauley, Shannon L.;
Tracy, Elisabeth T.;
Vogler, Carole A.;
Xialin Han;
Sheng-Kwei Song;
Wozniak, David F.;
Fowler, Stephen C.;
Klein, Robyn S.;
Sands, Mark S.

Publication type:

Article

Macrophages Counteract Demyelination in a Mouse Model of Globoid Cell Leukodystrophy.

Published in:

Journal of Neuroscience, 2011, v. 31, n. 10, p. 3610, doi. 10.1523/JNEUROSCI.6344-10.2011

By:

Kondo, Yoichi;
Adams, Jessica M.;
Vanier, Marie T.;
Duncan, Ian D.

Publication type:

Article

Molecular Characterization of Mutations That Cause Globoid Cell Leukodystrophy and Pharmacological Rescue Using Small Molecule Chemical Chaperones.

Published in:

Journal of Neuroscience, 2010, v. 30, n. 16, p. 5489, doi. 10.1523/JNEUROSCI.6383-09.2010

By:

Lee, Wing C.;
Dongcheul Kang;
Causevic, Ena;
Herdt, Aimee R.;
Eckman, Elizabeth A.;
Eckman, Christopher B.

Publication type:

Article

The peripheral neuropathy of canine globoid-cell leukodystrophy (Krabbe-type).

Published in:

Acta Neuropathologica, 1970, v. 16, n. 3, p. 226, doi. 10.1007/BF00687362

By:

Kurtz, Harold;
Fletcher, Thomas

Publication type:

Article

AAV2/5 vector expressing galactocerebrosidase ameliorates CNS disease in the murine model of globoid-cell leukodystrophy more efficiently than AAV2

Published in:

Molecular Therapy, 2005, v. 12, n. 3, p. 422, doi. 10.1016/j.ymthe.2005.04.019

By:

Lin, Darshong;
Fantz, Corinne R.;
Levy, Beth;
Rafi, Mohammad A.;
Vogler, Carole;
Wenger, David A.;
Sands, Mark S.

Publication type:

Article

Exploring the globoid cell leukodystrophy protein network and therapeutic interventions.

Published in:

Scientific Reports, 2024, v. 14, n. 1, p. 1, doi. 10.1038/s41598-024-66437-8

By:

Khanal, Pukar;
Patil, Vishal S.;
Bhattacharya, Kunal;
Shrivastava, Amit Kumar;
Bhandare, Vishwambhar V.

Publication type:

Article

Cellular uptake and lysosomal delivery of galactocerebrosidase tagged with the HIV Tat protein transduction domain.

Published in:

Journal of Neurochemistry, 2008, v. 104, n. 4, p. 1055, doi. 10.1111/j.1471-4159.2007.05030.x

By:

Xian-Yang Zhang;
Dinh, Annie;
Cronin, James;
Su-Chen Li;
Reiser, Jakob

Publication type:

Article

Globoid Cell Leukodystrophy (Krabbe Disease): An Update.

Published in:

ImmunoTargets & Therapy, 2023, v. 12, p. 105, doi. 10.2147/ITT.S424622

By:

Maghazachi, Azzam A

Publication type:

Article

Globoid cell leukodystrophy ( Krabbe's disease) in a Japanese domestic cat.

Published in:

Neuropathology, 2014, v. 34, n. 2, p. 190, doi. 10.1111/neup.12076

By:

Ogawa, Mizue;
Uchida, Kazuyuki;
Isobe, Kyoko;
Saito, Miyoko;
Harada, Tomoyuki;
Chambers, James K.;
Nakayama, Hiroyuki

Publication type:

Article

Characteristic inclusions in the kidney of canine globoid cell leukodystrophy.

Published in:

Acta Neuropathologica, 1986, v. 69, n. 1/2, p. 33, doi. 10.1007/BF00687036

By:

Suzuki, K.

Publication type:

Article

Demyelination in the spinal cord of murine globoid cell leukodystrophy (the twitcher mouse).

Published in:

Acta Neuropathologica, 1984, v. 62, n. 4, p. 298, doi. 10.1007/BF00687612

By:

Takahashi, H.;
Suzuki, K.

Publication type:

Article

Globoid cell leukodystrophy: Specialized contact of globoid cell with astrocyte in the brain of twitcher mouse.

Published in:

Acta Neuropathologica, 1982, v. 58, n. 4, p. 237, doi. 10.1007/BF00688603

By:

Takahashi, H.;
Suzuki, K.

Publication type:

Article

Fetal globoid cell leukodystrophy in one of twins.

Published in:

Acta Neuropathologica, 1979, v. 47, n. 2, p. 151, doi. 10.1007/BF00717039

By:

Okeda, R.;
Suzuki, Y.;
Horiguchi, S.;
Fujii, T.

Publication type:

Article

A neglected neurodegenerative disease: Adult-onset globoid cell leukodystrophy.

Published in:

Frontiers in Neuroscience, 2022, v. 16, p. 01, doi. 10.3389/fnins.2022.998275

By:

Guode Wu;
Zhenhua Li;
Jing Li;
Xin Li;
Manxia Wang;
Jing Zhang;
Guangyao Liu;
Pengfei Zhang

Publication type:

Article

Increased TNF-α production by peripheral blood mononuclear cells in patients with Krabbe's disease: effect of psychosine.

Published in:

European Journal of Clinical Investigation, 2007, v. 37, n. 9, p. 742, doi. 10.1111/j.1365-2362.2007.01850.x

By:

Pasqui, A. L.;
Di Renzo, M.;
Auteri, A.;
Federico, G.;
Puccetti, L.

Publication type:

Article

Natural history of Krabbe disease - a nationwide study in Germany using clinical and MRI data.

Published in:

2020

By:

Krieg, Sarah Isabel;
Krägeloh-Mann, Ingeborg;
Groeschel, Samuel;
Beck-Wödl, Stefanie;
Husain, Ralf A.;
Schöls, Ludger;
Kehrer, Christiane

Publication type:

journal article

Identifying altered developmental pathways in human globoid cell leukodystrophy iPSCs-derived NSCs using transcriptome profiling.

Published in:

BMC Genomics, 2023, v. 24, n. 1, p. 1, doi. 10.1186/s12864-023-09285-6

By:

Lv, Yafeng;
Qin, Yu;
Wang, Jing;
Tian, Guoshuai;
Wang, Wei;
Cao, Chunyu;
Zhang, Ye

Publication type:

Article

Rapamycin Alleviates Protein Aggregates, Reduces Neuroinflammation, and Rescues Demyelination in Globoid Cell Leukodystrophy.

Published in:

Cells (2073-4409), 2023, v. 12, n. 7, p. 993, doi. 10.3390/cells12070993

By:

Lin, Dar-Shong;
Huang, Yu-Wen;
Lee, Tsung-Han;
Chang, Lung;
Huang, Zon-Darr;
Wu, Tsu-Yen;
Wang, Tuan-Jen;
Ho, Che-Sheng

Publication type:

Article

Late-Onset Krabbe Disease (Globoid Cell Leukodystrophy): Clinical and Biochemical Features of 15 Cases.

Published in:

Developmental Neuroscience, 1991, v. 13, n. 4/5, p. 232, doi. 10.1159/000112166

By:

Kolodny, Edwin H.;
Raghavan, Srinivasa;
Krivit, William

Publication type:

Article

Newborn Screening for Krabbe Disease: Status Quo and Recommendations for Improvements.

Published in:

International Journal of Neonatal Screening (IJNS), 2024, v. 10, n. 1, p. 10, doi. 10.3390/ijns10010010

By:

Matern, Dietrich;
Basheeruddin, Khaja;
Klug, Tracy L.;
McKee, Gwendolyn;
Edge, Patricia U.;
Hall, Patricia L.;
Kurtzberg, Joanne;
Orsini, Joseph J.

Publication type:

Article

Impaired spermatogenesis in the twitcher mouse: A morphological evaluation from the seminiferous tubules to epididymal transit.

Published in:

Systems Biology in Reproductive Medicine, 2017, v. 63, n. 2, p. 77, doi. 10.1080/19396368.2016.1271918

By:

Luddi, Alice;
Gori, Martina;
Crifasi, Laura;
Marrocco, Camilla;
Belmonte, Giuseppe;
Costantino-Ceccarini, Elvira;
Piomboni, Paola

Publication type:

Article

Early progression of Krabbe disease in patients with symptom onset between 0 and 5 months.

Published in:

2019

By:

Beltran-Quintero, Maria L.;
Bascou, Nicholas A.;
Poe, Michele D.;
Wenger, David A.;
Saavedra-Matiz, Carlos A.;
Nichols, Matthew J.;
Escolar, Maria L.

Publication type:

journal article

A prospective natural history study of Krabbe disease in a patient cohort with onset between 6 months and 3 years of life.

Published in:

2018

By:

Bascou, Nicholas;
DeRenzo, Anthony;
Poe, Michele D.;
Escolar, Maria L.

Publication type:

journal article

Thickening of the cauda equina roots: a common finding in Krabbe disease.

Published in:

2016

By:

Hwang, Misun;
Zuccoli, Giulio;
Panigrahy, Ashok;
Rodriguez, David;
Poe, Michele;
Escolar, Maria;
Poe, Michele D;
Escolar, Maria L

Publication type:

journal article

Six novel mutations detected in the GALC gene in 17 Japanese patients with Krabbe disease, and new genotype–phenotype correlation.

Published in:

Journal of Human Genetics, 2006, v. 51, n. 6, p. 548, doi. 10.1007/s10038-006-0396-3

By:

Chengzhe Xu;
Sakai, Norio;
Taniike, Masako;
Inui, Koji;
Ozono, Keiichi

Publication type:

Article

Persisting Irritability with Fever Is Not Always Meningitis.

Published in:

Journal of Pediatric Neurosciences, 2022, v. 17, n. 3, p. 253, doi. 10.4103/jpn.jpn_283_20

By:

Fathima, Haseen;
Bhowmick, Rohit;
Kasinathan, Ananth Narayanan;
Bhat, B. Vishnu

Publication type:

Article

First hematopoietic stem cell transplantation in a child with late infantile Krabbe disease in Poland.

Published in:

Polish Journal of Pediatrics / Pediatria Polska, 2021, v. 96, n. 1, p. 68, doi. 10.5114/POLP.2021.104831

By:

Miśkiewicz-Migoń, Izabella;
Miśkiewicz-Bujna, Justyna;
Mielcarek-Siedziuk, Monika;
Frączkiewicz, Jowita;
Gorczyńska, Ewa;
Kałwak, Krzysztof

Publication type:

Article