keyword
https://read.qxmd.com/read/38358448/posterior-segment-changes-in-gaucher-disease
#21
JOURNAL ARTICLE
Anna Mueller, Ta Chen Peter Chang
No abstract text is available yet for this article.
February 1, 2024: JAMA Ophthalmology
https://read.qxmd.com/read/38339105/a-comparative-biochemical-and-pathological-evaluation-of-brain-samples-from-knock-in-murine-models-of-gaucher-disease
#22
JOURNAL ARTICLE
Makaila L Furderer, Bahafta Berhe, Tiffany C Chen, Stephen Wincovitch, Xuntian Jiang, Nahid Tayebi, Ellen Sidransky, Tae-Un Han
Gaucher disease (GD) is a lysosomal storage disorder stemming from biallelic mutations in GBA1 , characterized by glucocerebrosidase dysfunction and glucocerebroside and glucosylsphingosine accumulation. Since phenotypes of murine models of GD often differ from those in patients, the careful characterization of Gba1 mutant mice is necessary to establish their ability to model GD. We performed side-by-side comparative biochemical and pathologic analyses of four murine Gba1 models with genotypes L444P/L444P (p...
February 2, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38329692/gaucher-disease-a-glance-from-a-medicinal-chemistry-perspective
#23
JOURNAL ARTICLE
Filippo Prencipe, Chiara Barzan, Chiara Savian, Giampiero Spalluto, Emanuele Carosati, Marco De Amici, Giorgio Mosconi, Teresa Gianferrara, Stephanie Federico, Tatiana Da Ros
Rare diseases are particular pathological conditions affecting a limited number of people and few drugs are known to be effective as therapeutic treatment. Gaucher disease, caused by a deficiency of the lysosomal enzyme glucocerebrosidase, belongs to this class of disorders, and it is considered the most common among the Lysosomal Storage Diseases. The two main therapeutic approaches are the Enzyme Replacement Therapy (ERT) and the Substrate Reduction Therapy (SRT). ERT, consisting in replacing the defective enzyme by administering a recombinant enzyme, is effective in alleviating the visceral symptoms, hallmarks of the most common subtype of the disease whereas it has no effects when symptoms involve CNS, since the recombinant protein is unable to significantly cross the Blood Brain Barrier...
February 8, 2024: ChemMedChem
https://read.qxmd.com/read/38329128/inhibition-of-cysteine-protease-cathepsin-lincreases-the-level-and-activity-of-lysosomal-glucocerebrosidase
#24
JOURNAL ARTICLE
Myung Jong Kim, Soojin Kim, Thomas Reinheckel, Dimitri Krainc
The glucocerebrosidase (GCase) encoded by the GBA1 gene hydrolyzes glucosylceramide (GluCer) to ceramide and glucose in lysosomes. Homozygous or compound heterozygous GBA1 mutations cause the lysosomal storage disease Gaucher disease (GD) due to severe loss of GCase activity. Loss-of-function variants in the GBA1 gene are also the most common genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Restoring lysosomal GCase activity represents an important therapeutic approach for GBA1-associated diseases...
February 8, 2024: JCI Insight
https://read.qxmd.com/read/38315376/long-term-outcomes-of-disease-modifying-therapies-in-gaucher-disease
#25
JOURNAL ARTICLE
Rani Manisha, Shubha R Phadke
OBJECTIVES: To study clinical response to treatment with enzyme replacement therapy (ERT) and substrate reduction therapy (SRT) in a cohort of Gaucher disease. METHODS: Retrospective data of 8 patients of Gaucher disease was compiled. The treatment included all three currently available enzyme replacement therapies as well as substrate reduction therapy with Eliglustat. The relevant blood investigations were done in follow-up visits. The assessment of the effects of long-term treatment over varying periods up to 13 y was done with various issues related to the course of therapy documented...
February 5, 2024: Indian Journal of Pediatrics
https://read.qxmd.com/read/38313996/uncovering-a-new-family-cluster-of-gaucher-disease-a-case-report
#26
Ana Carvoeiro, Miguel Costa, Joana Silva, Paula Felgueiras, Diana Guerra
Gaucher disease (GD) is a recessive autosomal lysosomal storage disorder caused by a deficiency in glucocerebrosidase, leading to the accumulation of undigested glycolipids in the lysosomes of monocytes and macrophages. Patients with GD exhibit a spectrum of phenotypic heterogeneity and are broadly classified into three subtypes. Type 1 is the most common and is not associated with neurological damage, while types 2 and 3 are more severe, presenting with acute neuropathic and subacute neuropathic symptoms, respectively...
January 2024: Curēus
https://read.qxmd.com/read/38303705/long-term-intermittent-hypoxia-in-mice-induces-inflammatory-pathways-implicated-in-sleep-apnea-and-steatohepatitis-in-humans
#27
JOURNAL ARTICLE
Jonathan Gaucher, Emilie Montellier, Guillaume Vial, Florent Chuffart, Maëlle Guellerin, Sophie Bouyon, Emeline Lemarie, Yoshiki Yamaryo Botté, Aya Dirani, Raoua Ben Messaoud, Marie Joyeux Faure, Diane Godin Ribuot, Charlotte Costentin, Renaud Tamisier, Cyrille Y Botté, Saadi Khochbin, Sophie Rousseaux, Jean-Louis Pépin
Obstructive sleep apnea (OSA) induces intermittent hypoxia (IH), an independent risk factor for non-alcoholic fatty liver disease (NAFLD). While the molecular links between IH and NAFLD progression are unclear, immune cell-driven inflammation plays a crucial role in NAFLD pathogenesis. Using lean mice exposed to long-term IH and a cohort of lean OSA patients (n = 71), we conducted comprehensive hepatic transcriptomics, lipidomics, and targeted serum proteomics. Significantly, we demonstrated that long-term IH alone can induce NASH molecular signatures found in human steatohepatitis transcriptomic data...
February 16, 2024: IScience
https://read.qxmd.com/read/38299898/-the-tooth-a-marker-of-developmental-abnormalities
#28
JOURNAL ARTICLE
Muriel de La Dure-Molla, Céline Gaucher, Nicolas Dupré, Agnès Bloch Zupan, Ariane Berdal, Catherine Chaussain
Tooth formation results from specific epithelial-mesenchymal interactions, which summarize a number of developmental processes. Tooth anomalies may thus reflect subclinical diseases of the kidney, bone and more broadly of the mineral metabolism, skin or nervous system. Odontogenesis starts from the 3rd week of intrauterine life by the odontogenic orientation of epithelial cells by a first PITX2 signal. The second phase is the acquisition of the number, shape, and position of teeth. It depends on multiple transcription and growth factors (BMP, FGF, SHH, WNT)...
January 2024: Médecine Sciences: M/S
https://read.qxmd.com/read/38296153/eliglustat-exerts-anti-fibrotic-effects-by-activating-srebp2-in-tgf-%C3%AE-1-treated-myofibroblasts-derived-from-patients-with-idiopathic-pulmonary-fibrosis
#29
JOURNAL ARTICLE
Eon Kurumiya, Mayuu Iwata, Yoshitoshi Kasuya, Koichiro Tatsumi, Takuya Honda, Toshihiko Murayama, Hiroyuki Nakamura
Idiopathic pulmonary fibrosis (IPF) is a progressive chronic lung disease. Myofibroblasts play a critical role in fibrosis. These cells produce the extracellular matrix (ECM), which contributes to tissue regeneration; however, excess ECM production can cause fibrosis. Transforming growth factor-β (TGF-β)/Smad signaling induces ECM production by myofibroblasts; therefore, the inhibition of TGF-β/Smad signaling may be an effective strategy for IPF treatment. We recently reported that miglustat, an inhibitor of glucosylceramide synthase (GCS), ameliorates pulmonary fibrosis by inhibiting the nuclear translocation of Smad2/3...
January 29, 2024: European Journal of Pharmacology
https://read.qxmd.com/read/38285963/regression-of-smoldering-myeloma-with-treatment-of-gaucher-disease
#30
JOURNAL ARTICLE
Kevin Barley, Anshuman Parekh, Syed Pervez Salam, Damodara Rao Mendu, Ravi Prakash Shukla, Deepa Vatti, Daniel Verina, Chanan Stauffer, Christian Salib, Siraj El Jamal, Julie Teruya-Feldstein, Amy S Duffield, Violetta V Leshchenko, Sundar Jagannath, Manisha Balwani, Samir Parekh
No abstract text is available yet for this article.
January 29, 2024: Blood Advances
https://read.qxmd.com/read/38280458/glucosylceramide-flippases-contribute-to-cellular-glucosylceramide-homeostasis
#31
JOURNAL ARTICLE
Natsuki Kita, Asuka Hamamoto, Siddabasave Gowda B Gowda, Hiroyuki Takatsu, Kazuhisa Nakayama, Makoto Arita, Shu-Ping Hui, Hye-Won Shin
Lipid transport is an essential cellular process with importance to human health, disease development, and therapeutic strategies. Type IV P-type ATPases (P4-ATPases) have been identified as membrane lipid flippases by utilizing nitrobenzoxadiazole (NBD)-labeled lipids as substrates. Among the 14 human P4-ATPases, ATP10D was shown to flip NBD-glucosylceramide (GlcCer) across the plasma membrane. Here, we found that conversion of incorporated GlcCer (d18:1/12:0) to other sphingolipids is accelerated in cells exogenously expressing ATP10D but not its ATPase-deficient mutant...
January 25, 2024: Journal of Lipid Research
https://read.qxmd.com/read/38274703/type-1-gaucher-s-disease-a-rare-genetic-lipid-metabolic-disorder-whose-diagnosis-was-concealed-by-recurrent-malaria-infections-in-a-12-year-old-girl
#32
Yekosani Mitala, Abraham Birungi, Branchard Mushabe, John Manzi, Brian Ssenkumba, Raymond Atwine, Siyadora Ankunda
INTRODUCTION: Gaucher disease is a rare autosomal recessive lysosomal storage disease with unknown prevalence in Africa and no record of the disease exists in Uganda. CASE PRESENTATION: We report a case of a 12-year-old female, the last born of 6 from a family with no known familial disease who presented with non-neuronopathic Gaucher disease and superimposed malaria. The disease was initially misdiagnosed as hyperreactive malarial splenomegaly but was subsequently confirmed by examination of the bone marrow smear and core...
2024: Journal of Blood Medicine
https://read.qxmd.com/read/38257371/identification-of-gm1-ganglioside-secondary-accumulation-in-fibroblasts-from-neuropathic-gaucher-patients-and-effect-of-a-trivalent-trihydroxypiperidine-iminosugar-compound-on-its-storage-reduction
#33
JOURNAL ARTICLE
Costanza Ceni, Francesca Clemente, Francesca Mangiavacchi, Camilla Matassini, Rodolfo Tonin, Anna Caciotti, Federica Feo, Domenico Coviello, Amelia Morrone, Francesca Cardona, Martino Calamai
Gaucher disease (GD) is a rare genetic metabolic disorder characterized by a dysfunction of the lysosomal glycoside hydrolase glucocerebrosidase (GCase) due to mutations in the gene GBA1, leading to the cellular accumulation of glucosylceramide (GlcCer). While most of the current research focuses on the primary accumulated material, lesser attention has been paid to secondary storage materials and their reciprocal intertwining. By using a novel approach based on flow cytometry and fluorescent labelling, we monitored changes in storage materials directly in fibroblasts derived from GD patients carrying N370S/RecNcil and homozygous L444P or R131C mutations with respect to wild type...
January 17, 2024: Molecules: a Journal of Synthetic Chemistry and Natural Product Chemistry
https://read.qxmd.com/read/38253316/in-vivo-corneal-confocal-microscopy-revealing-gaucher-disease-in-a-child
#34
JOURNAL ARTICLE
Gilles C Martin, Anaïs Brassier, Eric Gabison
No abstract text is available yet for this article.
January 19, 2024: Canadian Journal of Ophthalmology. Journal Canadien D'ophtalmologie
https://read.qxmd.com/read/38251062/characterization-of-novel-human-%C3%AE-glucocerebrosidase-antibodies-for-parkinson-s-disease-research
#35
JOURNAL ARTICLE
Tiffany Jong, Alexandra Gehrlein, Ellen Sidransky, Ravi Jagasia, Yu Chen
BACKGROUND: Mutations in GBA1, which encodes the lysosome enzyme β-glucocerebrosidase (also referred to as acid β-glucosidase or GCase), are the most common genetic risk factor for Parkinson's disease (PD) and dementia with Lewy bodies (DLB). Evidence also suggests that loss of GCase activity is implicated in PD without GBA1 mutations. Consequently, therapies targeting GCase are actively being pursued as potential strategies to modify the progression of PD and related synucleinopathies...
2024: Journal of Parkinson's Disease
https://read.qxmd.com/read/38248631/light-and-shadows-in-newborn-screening-for-lysosomal-storage-disorders-eight-years-of-experience-in-northeast-italy
#36
JOURNAL ARTICLE
Vincenza Gragnaniello, Chiara Cazzorla, Daniela Gueraldi, Andrea Puma, Christian Loro, Elena Porcù, Maria Stornaiuolo, Paolo Miglioranza, Leonardo Salviati, Alessandro P Burlina, Alberto B Burlina
In the last two decades, the development of high-throughput diagnostic methods and the availability of effective treatments have increased the interest in newborn screening for lysosomal storage disorders. However, long-term follow-up experience is needed to clearly identify risks, benefits and challenges. We report our 8-year experience of screening and follow-up on about 250,000 neonates screened for four lysosomal storage diseases (Pompe disease, mucopolysaccharidosis type I, Fabry disease, Gaucher disease), using the enzyme activity assay by tandem mass spectrometry, and biomarker quantification as a second-tier test...
December 25, 2023: International Journal of Neonatal Screening
https://read.qxmd.com/read/38235973/long-term-microvascular-remodeling-and-cystic-changes-after-retinal-detachment-treated-with-silicon-oil-tamponade
#37
JOURNAL ARTICLE
Nathalie Pfister, Léa Dormegny, Laurent Ballonzoli, Arnaud Sauer, Claude Speeg-Schatz, Tristan Bourcier, David Gaucher
PURPOSE: To determine the long-term microvascular alterations associated with macular cystic changes after retinal detachment surgery with silicone oil tamponade. METHODS: The results of two optical coherence tomography angiographies performed at 11 months and 38 months after silicone removal were retrospectively analyzed for 30 eyes. The data were compared between both measurements and between eyes with macular cysts (MC+) and without macular cysts (MC-). Two patterns of cysts were identified and compared: cysts exclusively involving the inner nuclear layer (INLc) and cysts present in all retinal layers...
June 1, 2023: Retina
https://read.qxmd.com/read/38222997/uncovering-the-challenges-of-rare-diseases-insights-from-a-retrospective-cross-sectional-study-in-albania-2005-2022
#38
JOURNAL ARTICLE
Adela Perolla, Elsuarta Çalliku, Alma Cili, Tatjana Caja, Polikron Pulluqi, Arben Ivanaj
BACKGROUND: Diagnosing and treating rare diseases pose significant challenges within global healthcare systems due to their low prevalence and varying criteria for defining them. In Albania, the absence of a dedicated registry for rare diseases exacerbates these challenges. Recognising this gap, a retrospective cross-sectional study was conducted from January 2005 to December 2022 to analyse the incidence and prevalence of rare haematologic diseases in the country, diagnosed in the Hematology Service at the University Hospital Centre "Mother Teresa," which is the sole diagnostic center for blood diseases in Albania...
January 2024: Curēus
https://read.qxmd.com/read/38203300/lipids-as-emerging-biomarkers-in-neurodegenerative-diseases
#39
REVIEW
Justin Wei, Li Chin Wong, Sebastian Boland
Biomarkers are molecules that can be used to observe changes in an individual's biochemical or medical status and provide information to aid diagnosis or treatment decisions. Dysregulation in lipid metabolism in the brain is a major risk factor for many neurodegenerative disorders, including frontotemporal dementia, Alzheimer's disease, Parkinson's disease, and amyotrophic lateral sclerosis. Thus, there is a growing interest in using lipids as biomarkers in neurodegenerative diseases, with the anionic phospholipid bis(monoacylglycerol)phosphate and (glyco-)sphingolipids being the most promising lipid classes thus far...
December 21, 2023: International Journal of Molecular Sciences
https://read.qxmd.com/read/38200687/soluble-mannose-receptor-a-potential-biomarker-in-gaucher-disease
#40
JOURNAL ARTICLE
Brendan Beaton, Derralynn A Hughes
PURPOSE: Soluble mannose receptor (sMR) relates to mannose receptor expression on macrophages, and is elevated in inflammatory disorders. Gaucher disease (GD) has altered macrophage function and utilises mannose receptors for enzyme replacement therapy (ERT) endocytosis. sMR has not previously been studied in GD. METHODS: sMR was measured by ELISA and correlated with GD clinical features including spleen and liver volume, haemoglobin and platelet count, bone marrow burden (BMB) scores and immunoglobulin levels...
January 10, 2024: European Journal of Haematology
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