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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1974 1
1975 1
1976 3
1977 1
1978 3
1979 3
1980 2
1981 2
1982 4
1983 5
1984 5
1985 8
1986 4
1987 1
1988 2
1989 2
1990 1
1991 3
1992 2
1993 1
1994 1
1995 1
1996 1
1997 4
1998 2
1999 2
2000 3
2001 2
2003 5
2004 2
2005 4
2006 4
2007 4
2008 3
2009 2
2010 2
2011 2
2012 6
2013 2
2014 3
2015 4
2016 1
2017 5
2018 4
2019 2
2020 6
2021 2
2023 3
2024 1

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128 results

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Page 1
Mitochondria-associated membranes in aging and senescence: structure, function, and dynamics.
Janikiewicz J, Szymański J, Malinska D, Patalas-Krawczyk P, Michalska B, Duszyński J, Giorgi C, Bonora M, Dobrzyn A, Wieckowski MR. Janikiewicz J, et al. Cell Death Dis. 2018 Feb 28;9(3):332. doi: 10.1038/s41419-017-0105-5. Cell Death Dis. 2018. PMID: 29491385 Free PMC article. Review.
Sites of close contact between mitochondria and the endoplasmic reticulum (ER) are known as mitochondria-associated membranes (MAM) or mitochondria-ER contacts (MERCs), and play an important role in both cell physiology and pathology. A growing body of evidence indicates that cha …
Sites of close contact between mitochondria and the endoplasmic reticulum (ER) are known as mitochondria-associated membranes (MAM) or mitoc …
The natural history of Type 1 infantile GM1 gangliosidosis: A literature-based meta-analysis.
Lang FM, Korner P, Harnett M, Karunakara A, Tifft CJ. Lang FM, et al. Mol Genet Metab. 2020 Mar;129(3):228-235. doi: 10.1016/j.ymgme.2019.12.012. Epub 2019 Dec 30. Mol Genet Metab. 2020. PMID: 31937438 Free PMC article. Review.
INTRODUCTION: Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage disorder, with life expectancy of <3 years of age. ...METHODS: PubMed was searched with the keyword "GM1 Gangliosidosis" and for articles from the year 2000 on …
INTRODUCTION: Type 1 GM1 gangliosidosis is an ultra-rare, rapidly fatal lysosomal storage disorder, with life expectancy of &l …
Morquio B Disease. Disease Characteristics and Treatment Options of a Distinct GLB1-Related Dysostosis Multiplex.
Yuskiv N, Higaki K, Stockler-Ipsiroglu S. Yuskiv N, et al. Int J Mol Sci. 2020 Nov 30;21(23):9121. doi: 10.3390/ijms21239121. Int J Mol Sci. 2020. PMID: 33266180 Free PMC article. Review.
Morquio B disease (MBD) is an autosomal recessive GLB1-gene-related lysosomal storage disease, presenting with a peculiar type of dysostosis multiplex which is also observed in GALNS-related Morquio A disease. MBD may present as pure skeletal phenotype (pure MBD) or in com …
Morquio B disease (MBD) is an autosomal recessive GLB1-gene-related lysosomal storage disease, presenting with a peculiar type of dysostosis …
Lysosomal storage disease as an etiology of nonimmune hydrops.
Gimovsky AC, Luzi P, Berghella V. Gimovsky AC, et al. Am J Obstet Gynecol. 2015 Mar;212(3):281-90. doi: 10.1016/j.ajog.2014.10.007. Epub 2014 Oct 8. Am J Obstet Gynecol. 2015. PMID: 25305402 Review.
The 3 authors screened all abstracts and manuscripts independently. Metaanalysis of Observational Studies in Epidemiology guidelines were followed. Fifty-four case series with 678 total cases of NIH were identified. ...The 3 most common LSDs identified in cases of NIH, in …
The 3 authors screened all abstracts and manuscripts independently. Metaanalysis of Observational Studies in Epidemiology guidelines …
Gangliosides and autoimmune diabetes.
Misasi R, Dionisi S, Farilla L, Carabba B, Lenti L, Di Mario U, Dotta F. Misasi R, et al. Diabetes Metab Rev. 1997 Sep;13(3):163-79. doi: 10.1002/(sici)1099-0895(199709)13:3<163::aid-dmr189>3.0.co;2-z. Diabetes Metab Rev. 1997. PMID: 9307889 Review.
These diseases include two major forms of ganglioside storage, namely GM2-gangliosidosis (Tay-Sachs and its beta-hexosaminidase deficiency) and GM1-gangliosidosis (beta-galactosidase deficiency), where the most prominent pathological characteristic is the lysosomal …
These diseases include two major forms of ganglioside storage, namely GM2-gangliosidosis (Tay-Sachs and its beta-hexosaminidase deficiency) …
Protein modeling and clinical description of a novel in-frame GLB1 deletion causing GM1 gangliosidosis type II.
Richter JE Jr, Zimmermann MT, Blackburn PR, Mohammad AN, Klee EW, Pollard LM, Macmurdo CF, Atwal PS, Caulfield TR. Richter JE Jr, et al. Mol Genet Genomic Med. 2018 Nov;6(6):1229-1235. doi: 10.1002/mgg3.454. Epub 2018 Sep 5. Mol Genet Genomic Med. 2018. PMID: 30187681 Free PMC article.
Pathogenic variants in GLB1 cause two different lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type IVB. In GM1 gangliosidosis, decreased beta-galactosidase-1 enzymatic activity leads to the accumulation of GM1 gangliosides, …
Pathogenic variants in GLB1 cause two different lysosomal storage disorders: GM1 gangliosidosis and mucopolysaccharidosis type …
GM1 gangliosidosis in adults: clinical and molecular analysis of 16 Japanese patients.
Yoshida K, Oshima A, Sakuraba H, Nakano T, Yanagisawa N, Inui K, Okada S, Uyama E, Namba R, Kondo K, et al. Yoshida K, et al. Ann Neurol. 1992 Mar;31(3):328-32. doi: 10.1002/ana.410310316. Ann Neurol. 1992. PMID: 1353343
Clinical findings were compared with the results of molecular analysis in 16 Japanese patients from 10 unrelated families with the adult/chronic form of GM1 gangliosidosis. Age of onset ranged from 3 to 30 years. Major clinical manifestations were gait and speech di …
Clinical findings were compared with the results of molecular analysis in 16 Japanese patients from 10 unrelated families with the adult/chr …
Natural history of GM1 gangliosidosis-Retrospective cohort study of 61 French patients from 1998 to 2019.
Laur D, Pichard S, Bekri S, Caillaud C, Froissart R, Levade T, Roubertie A, Desguerre I, Héron B, Auvin S. Laur D, et al. J Inherit Metab Dis. 2023 Sep;46(5):972-981. doi: 10.1002/jimd.12646. Epub 2023 Jul 11. J Inherit Metab Dis. 2023. PMID: 37381921
GM1 gangliosidosis is a rare lysosomal storage disorder associated with beta-galactosidase enzyme deficiency. There are three types of GM1 gangliosidosis based on age of symptom onset, which correlate with disease severity. ...
GM1 gangliosidosis is a rare lysosomal storage disorder associated with beta-galactosidase enzyme deficiency. There are three …
Analysis of urinary oligosaccharide excretion patterns by UHPLC/HRAM mass spectrometry for screening of lysosomal storage disorders.
Hagemeijer MC, van den Bosch JC, Bongaerts M, Jacobs EH, van den Hout JMP, Oussoren E, Ruijter GJG. Hagemeijer MC, et al. J Inherit Metab Dis. 2023 Mar;46(2):206-219. doi: 10.1002/jimd.12597. Epub 2023 Feb 28. J Inherit Metab Dis. 2023. PMID: 36752951
Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase deficiency, sialidosis, galactosialidosis, fucosidosis, aspartylglucosaminuria, GM1 gangliosidosis, GM2 gangliosidosis (M. Sandhoff) and mucolipidosi …
Using this platform, we were able to identify alpha-mannosidosis, beta-mannosidosis, alpha-N-acetylgalactosaminidase deficiency, sialidosis, …
Infantile gangliosidoses: Mapping a timeline of clinical changes.
Jarnes Utz JR, Kim S, King K, Ziegler R, Schema L, Redtree ES, Whitley CB. Jarnes Utz JR, et al. Mol Genet Metab. 2017 Jun;121(2):170-179. doi: 10.1016/j.ymgme.2017.04.011. Epub 2017 Apr 29. Mol Genet Metab. 2017. PMID: 28476546 Free PMC article. Clinical Trial.
BACKGROUND: Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). ...Common patterns of clinical change included: hypotonia before 6months of age; severe motor skill impairment within first year of life; se …
BACKGROUND: Infantile gangliosidoses include GM1 gangliosidosis and GM2 gangliosidosis (Tay-Sachs disease, Sandhoff disease). …
128 results