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

Year Number of Results
1975 2
1977 1
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1979 1
1981 1
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1983 1
1984 2
1985 6
1986 3
1987 4
1988 2
1989 3
1990 4
1991 5
1992 1
1993 7
1994 9
1995 3
1996 11
1997 9
1998 6
1999 8
2000 8
2001 9
2002 10
2003 16
2004 17
2005 12
2006 18
2007 22
2008 12
2009 12
2010 24
2011 24
2012 13
2013 21
2014 18
2015 19
2016 26
2017 19
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2019 24
2020 24
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2022 17
2023 22
2024 5

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480 results

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Page 1
Neuronopathic Gaucher disease: Beyond lysosomal dysfunction.
Arévalo NB, Lamaizon CM, Cavieres VA, Burgos PV, Álvarez AR, Yañez MJ, Zanlungo S. Arévalo NB, et al. Front Mol Neurosci. 2022 Aug 3;15:934820. doi: 10.3389/fnmol.2022.934820. eCollection 2022. Front Mol Neurosci. 2022. PMID: 35992201 Free PMC article. Review.
Gaucher disease (GD) is an inherited disorder caused by recessive mutations in the GBA1 gene that encodes the lysosomal enzyme beta-glucocerebrosidase (beta-GC). beta-GC hydrolyzes glucosylceramide (GluCer) into glucose and ceramide in the lysosome, and the loss of its act
Gaucher disease (GD) is an inherited disorder caused by recessive mutations in the GBA1 gene that encodes the lysosomal enzyme beta-g
Diagnosing neuronopathic Gaucher disease: New considerations and challenges in assigning Gaucher phenotypes.
Daykin EC, Ryan E, Sidransky E. Daykin EC, et al. Mol Genet Metab. 2021 Feb;132(2):49-58. doi: 10.1016/j.ymgme.2021.01.002. Epub 2021 Jan 9. Mol Genet Metab. 2021. PMID: 33483255 Free PMC article. Review.
The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic neuronopathic GD (GD3), also have a continuum of disease severity with an overlap in manifestations and limited genotype-phenotype correlation. ...In this work, we present both classic an …
The more severe forms of the disease, acute neuronopathic GD (GD2) and chronic neuronopathic GD (GD3), also have a continuum o …
Imaging of non-neuronopathic Gaucher disease: recent advances in quantitative imaging and comprehensive assessment of disease involvement.
Degnan AJ, Ho-Fung VM, Ahrens-Nicklas RC, Barrera CA, Serai SD, Wang DJ, Ficicioglu C. Degnan AJ, et al. Insights Imaging. 2019 Jul 10;10(1):70. doi: 10.1186/s13244-019-0743-5. Insights Imaging. 2019. PMID: 31289964 Free PMC article. Review.
Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme beta-glucocerebrosidase causing the accumulation of abnormal macrophages ("Gaucher cells") within multiple organs, most conspicuously affecting the liver, spleen, and bone
Gaucher disease is an inherited metabolic disorder resulting in deficiency of lysosomal enzyme beta-glucocerebrosidase causing the ac
The definition of neuronopathic Gaucher disease.
Schiffmann R, Sevigny J, Rolfs A, Davies EH, Goker-Alpan O, Abdelwahab M, Vellodi A, Mengel E, Lukina E, Yoo HW, Collin-Histed T, Narita A, Dinur T, Revel-Vilk S, Arkadir D, Szer J, Wajnrajch M, Ramaswami U, Sidransky E, Donald A, Zimran A. Schiffmann R, et al. J Inherit Metab Dis. 2020 Sep;43(5):1056-1059. doi: 10.1002/jimd.12235. Epub 2020 Apr 3. J Inherit Metab Dis. 2020. PMID: 32242941 Free PMC article.
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition of nGD, including no description of how best to diagnostically separate the acute form-Gaucher type 2-from the subacute or chronic f
Neuronopathic Gaucher disease (nGD) has a very wide clinical and genotypic spectrum. However, there is no consensus definition
Direct activation of microglia by β-glucosylceramide causes phagocytosis of neurons that exacerbates Gaucher disease.
Shimizu T, Schutt CR, Izumi Y, Tomiyasu N, Omahdi Z, Kano K, Takamatsu H, Aoki J, Bamba T, Kumanogoh A, Takao M, Yamasaki S. Shimizu T, et al. Immunity. 2023 Feb 14;56(2):307-319.e8. doi: 10.1016/j.immuni.2023.01.008. Epub 2023 Feb 2. Immunity. 2023. PMID: 36736320
However, it remains unclear how beta-GlcCer causes severe neuronopathic symptoms, which are not fully treated by current therapies. ...This characteristic pathology was also observed in human neuronopathic GD. Blockade of these pathways in mice with a combination of …
However, it remains unclear how beta-GlcCer causes severe neuronopathic symptoms, which are not fully treated by current therapies. . …
Pediatric non-neuronopathic Gaucher disease: presentation, diagnosis and assessment. Consensus statements.
Grabowski GA, Andria G, Baldellou A, Campbell PE, Charrow J, Cohen IJ, Harris CM, Kaplan P, Mengel E, Pocovi M, Vellodi A. Grabowski GA, et al. Eur J Pediatr. 2004 Feb;163(2):58-66. doi: 10.1007/s00431-003-1362-0. Epub 2003 Dec 16. Eur J Pediatr. 2004. PMID: 14677061 Review.
Gaucher disease is caused by defective activity of glucocerebrosidase. ...Traditionally, this has been referred to as the 'adult type'; however, 66% of individuals with symptomatic non-neuronopathic Gaucher disease manifest in childhood. Onset in childhood is
Gaucher disease is caused by defective activity of glucocerebrosidase. ...Traditionally, this has been referred to as the 'adult type
Neuronopathic Gaucher disease models reveal defects in cell growth promoted by Hippo pathway activation.
Messelodi D, Strocchi S, Bertuccio SN, Baden P, Indio V, Giorgi FM, Taddia A, Serravalle S, Valente S, di Fonzo A, Frattini E, Bernardoni R, Pession A, Grifoni D, Deleidi M, Astolfi A, Pession A. Messelodi D, et al. Commun Biol. 2023 Apr 19;6(1):431. doi: 10.1038/s42003-023-04813-2. Commun Biol. 2023. PMID: 37076591 Free PMC article.
Neuronopathic patients display dramatic neuronal loss and increased neuroinflammation, whose molecular basis are still unclear. ...Interestingly, Hippo knock-down in the GBA-KO flies rescues the proliferative defect, suggesting that targeting the Hippo pathway can be a pro
Neuronopathic patients display dramatic neuronal loss and increased neuroinflammation, whose molecular basis are still unclear. ...In
Neuronopathic forms of Gaucher's disease.
Erikson A, Bembi B, Schiffmann R. Erikson A, et al. Baillieres Clin Haematol. 1997 Dec;10(4):711-23. doi: 10.1016/s0950-3536(97)80035-2. Baillieres Clin Haematol. 1997. PMID: 9497859 Review.
Neuronopathic Gaucher patients may have a wide variety of clinical manifestations and natural history, and can present with a range of degrees of severity of systemic disease and neurological deficit. ...The almost 20 different mutations of the glucocerebrosidase ge
Neuronopathic Gaucher patients may have a wide variety of clinical manifestations and natural history, and can present with a
A global neuronopathic gaucher disease registry (GARDIAN): a patient-led initiative.
Collin-Histed T, Stoodley M, Beusterien K, Elstein D, Jaffe DH, Revel-Vilk S, Davies EH; International Gaucher Alliance (IGA). Collin-Histed T, et al. Orphanet J Rare Dis. 2023 Jul 21;18(1):195. doi: 10.1186/s13023-023-02828-w. Orphanet J Rare Dis. 2023. PMID: 37480076 Free PMC article.
GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over time. ...This paper summarizes the development of a patient-initiated Gaucher Registry for Development Innovation and Analysis of Neu
GD types 2 and 3 are known as neuronopathic Gaucher disease (nGD) because they have brain involvement that progresses over tim …
Microglia orchestrate neuroinflammation.
Feldman RA. Feldman RA. Elife. 2022 Aug 22;11:e81890. doi: 10.7554/eLife.81890. Elife. 2022. PMID: 35993545 Free PMC article.
Experiments in genetically altered mice reveal that microglia play an important role in the neurological damage associated with neuro-nopathic Gaucher disease....
Experiments in genetically altered mice reveal that microglia play an important role in the neurological damage associated with neuro-nopath …
480 results