keyword
https://read.qxmd.com/read/38485813/gaucher-or-pseudo-gaucher-cells
#1
JOURNAL ARTICLE
Gurpreet Kaur, Ankur Ahuja, Ganesh Kumar Vishwananthan, Arijit Sen
No abstract text is available yet for this article.
February 28, 2024: Blood Research
https://read.qxmd.com/read/38485567/c-754t-a-homozygous-mutation-described-for-the-first-time-in-three-moroccan-patients-with-gaucher-disease
#2
JOURNAL ARTICLE
Ghizlane Zouiri, Hajar Rhouda, Yamna Kriouile
Gaucher disease (GD) is a lysosomal storage disorder caused by glucocerebrosidase (GBA) deficiency. There are three subcategories of GD: Type 1 is characterized by the absence of primary central nervous system involvement; type 2 is an acute neuropathic disorder; and type 3 is chronic neuropathic. The correlation between genotype and phenotype is sometimes difficult to establish. The F213I (c.754T>A p.Phe252Ile) mutation was reported to be a unique mutation in Asia. To our knowledge, this is the first time the c...
March 13, 2024: Archives de Pédiatrie: Organe Officiel de la Sociéte Française de Pédiatrie
https://read.qxmd.com/read/38474117/a-brazilian-rare-disease-center-s-experience-with-glucosylsphingosine-lyso-gb1-in-patients-with-gaucher-disease-exploring-a-novel-correlation-with-igg-levels-in-plasma-and-a-biomarker-measurement-in-csf
#3
JOURNAL ARTICLE
Matheus Vernet Machado Bressan Wilke, Gabrielle Dineck Iop, Larissa Faqueti, Layzon Antonio Lemos da Silva, Francyne Kubaski, Fabiano O Poswar, Kristiane Michelin-Tirelli, Dévora Randon, Wyllians Vendramini Borelli, Roberto Giugliani, Ida Vanessa D Schwartz
Gaucher disease (GD, OMIM 230800) is one of the most common lysosomal disorders, being caused by the deficient activity of the enzyme acid β-glucocerebrosidase (Gcase). Three clinical forms of Gaucher's disease (GD) are classified based on neurological involvement. Type 1 (GD1) is non-neuronopathic, while types 2 (GD2) and 3 (GD3) are neuronopathic forms. Gcase catalyzes the conversion of glucosylceramide (GlcCer) into ceramide and glucose. As GlcCer accumulates in lysosomal macrophages, it undergoes deacylation to become glycosylsphingosine (lyso-Gb1), which has shown to be a useful and reliable biomarker for the diagnosis and monitoring of treated and untreated patients with GD...
March 1, 2024: International Journal of Molecular Sciences
https://read.qxmd.com/read/38464899/taliglucerase-alfa-in-the-longterm-treatment-of-children-and-adolescents-with-type-1-gaucher-disease-the-albanian-experience
#4
JOURNAL ARTICLE
Paskal Cullufi, Sonila Tomori, Virtut Velmishi, Agim Gjikopulli, Ilir Akshija, Aferdita Tako, Ermira Dervishi, Gladiola Hoxha, Marjeta Tanka, Erjon Troja, Mirela Tabaku
INTRODUCTION: Enzyme replacement therapy is already recognized as the gold standard of care for patients with Gaucher disease. Taliglucerase alfa is one of the three alternatives recommended for treatment of Gaucher disease in children and adults. AIM: This study aims to evaluate the long-term efficacy and safety of Taliglucerase alfa in children and adolescents with Type 1 Gaucher disease. PATIENTS AND METHODS: Over a six-year period, we monitored the efficacy of continuous treatment in 10 patients by assessing various parameters, including hemoglobin concentration, platelet count, liver and spleen volume, bone mineral density, glucosylsphingosine level, chitotriosidase activity, and growth parameters ...
2024: Frontiers in Pediatrics
https://read.qxmd.com/read/38454456/gba1-inactivation-in-oligodendrocytes-affects-myelination-and-induces-neurodegenerative-hallmarks-and-lipid-dyshomeostasis-in-mice
#5
JOURNAL ARTICLE
Ilaria Gregorio, Loris Russo, Enrica Torretta, Pietro Barbacini, Gabriella Contarini, Giada Pacinelli, Dario Bizzotto, Manuela Moriggi, Paola Braghetta, Francesco Papaleo, Cecilia Gelfi, Enrico Moro, Matilde Cescon
BACKGROUND: Mutations in the β-glucocerebrosidase (GBA1) gene do cause the lysosomal storage Gaucher disease (GD) and are among the most frequent genetic risk factors for Parkinson's disease (PD). So far, studies on both neuronopathic GD and PD primarily focused on neuronal manifestations, besides the evaluation of microglial and astrocyte implication. White matter alterations were described in the central nervous system of paediatric type 1 GD patients and were suggested to sustain or even play a role in the PD process, although the contribution of oligodendrocytes has been so far scarcely investigated...
March 7, 2024: Molecular Neurodegeneration
https://read.qxmd.com/read/38444576/evaluation-in-a-highly-specialised-enzyme-laboratory-of-a-digital-microfluidics-platform-for-rapid-assessment-of-lysosomal-enzyme-activity-in-dried-blood-spots
#6
JOURNAL ARTICLE
Rohit Hirachan, Alistair Horman, Derek Burke, Simon Heales
Lysosomal storage disorders (LSDs) are predominantly enzyme deficiencies leading to substrate accumulation, causing progressive damage to multiple organs. To date, a crucial part of diagnosing LSDs is measuring enzymatic activity in leucocytes, plasma, or dried blood spots (DBS). Here, we present results from a proof-of-principle study, evaluating an innovative digital microfluidics (DMF) platform, referred to as SEEKER®, that can measure the activity of the following four lysosomal enzymes from DBS: α-L-iduronidase (IDUA) for mucopolysaccharidosis I (MPS I), acid α-glucosidase (GAA) for Pompe disease, β-glucosidase (GBA) for Gaucher disease, and α-galactosidase A (GLA) for Fabry disease...
March 2024: JIMD Reports
https://read.qxmd.com/read/38444573/lysosomal-storage-disorders-identified-in-adult-population-from-india-experience-of-a-tertiary-genetic-centre-and-review-of-literature
#7
JOURNAL ARTICLE
Jayesh Sheth, Aadhira Nair, Riddhi Bhavsar, Koumudi Godbole, Chaitanya Datar, Sheela Nampoothiri, Inusha Panigrahi, Heli Shah, Shruti Bajaj, Naresh Tayade, Naveen Bhardwaj, Harsh Sheth
Lysosomal storage disorders (LSDs) in adults have milder phenotype and variable age at presentation. Several studies have described the phenotype, genotype and treatment outcomes for adult-onset LSDs like Gaucher, Fabry, Pompe disease and others. We describe the first systematic study on the occurrence of LSDs in an adult population from India. It describes, the key clinical signs seen in these patients and those from literature review that can aid in early detection. Of 2102 biochemically diagnosed LSDs cases, 32 adult patients were identified with LSDs...
March 2024: JIMD Reports
https://read.qxmd.com/read/38437875/the-lysosomal-%C3%AE-glucocerebrosidase-strikes-mitochondria-implications-for-parkinson-s-therapeutics
#8
JOURNAL ARTICLE
Juan Carlos Rubilar, Tiago Fleming Outeiro, Andrés D Klein
Parkinson's disease (PD) is a neurodegenerative disorder primarily known for typical motor features that arise due to the loss of dopaminergic neurons in the substantia nigra. However, the precise molecular etiology of the disease is still unclear. Several cellular pathways have been linked to PD, including the autophagy-lysosome pathway (ALP), α-synuclein (α-syn) aggregation, and mitochondrial function. Interestingly, the mechanistic link between GBA1, the gene that encodes for lysosomal β-glucocerebrosidase (GCase), and PD lies in the interplay between GCase functions in the lysosome and mitochondria...
March 4, 2024: Brain
https://read.qxmd.com/read/38430150/clinical-manifestation-of-hearing-loss-in-a-boy-with-type-iiib-gaucher-disease-a-unique-case-report
#9
JOURNAL ARTICLE
Xiaoyan Sun, Peng Wu, Yao Xue, Jie Huang, Rufeng Lin, Yongjun Fang
OBJECTIVE: Gaucher disease (GD) is a clinically rare single-gene recessive lysosomal storage disease mainly divided into three subtypes I to III. This report aims to present a case of type IIIb GD in a Chinese child with a focus on the manifestation of hearing loss and the importance of early diagnosis and monitoring. METHODS: The patient underwent a routine physical examination upon admission, followed by CT scans of the chest and abdomen, MRI of the brain, and bone marrow smear examination...
March 1, 2024: Alternative Therapies in Health and Medicine
https://read.qxmd.com/read/38421714/role-of-natural-killer-t-nkt-cells-in-myeloma-biology-and-therapy
#10
JOURNAL ARTICLE
Madhav V Dhodapkar
Natural Killer T (NKT) cells are distinct innate lymphocytes that recognize lipid antigens in the context of nonpolymorphic molecule CD1d. Multiple myeloma (MM) is a hematologic malignancy wherein malignant plasma cells express CD1d and are sensitive to lysis by NKT cells. Progressive malignancy in MM is characterized by NKT cell dysfunction. Several studies have tried to harness the anti-tumor properties of NKT cells in MM to mediate tumor regression. NKT cells are also attractive targets for approaches at immune redirection in MM with chimeric-antigen receptor NKT (CAR-NKT) and bispecific antibodies...
2024: Critical Reviews in Oncogenesis
https://read.qxmd.com/read/38414738/exploring-the-efficacy-and-safety-of-ambroxol-in-gaucher-disease-an-overview-of-clinical-studies
#11
REVIEW
Feda E Mohamed, Fatma Al-Jasmi
Gaucher disease (GD) is mainly caused by glucocerebrosidase (GCase) enzyme deficiency due to genetic variations in the GBA1 gene leading to the toxic accumulation of sphingolipids in various organs, which causes symptoms such as anemia, thrombocytopenia, hepatosplenomegaly, and neurological manifestations. GD is clinically classified into the non-neuronopathic type 1, and the acute and chronic neuronopathic forms, types 2 and 3, respectively. In addition to the current approved GD medications, the repurposing of Ambroxol (ABX) has emerged as a prospective enzyme enhancement therapy option showing its potential to enhance mutated GCase activity and reduce glucosylceramide accumulation in GD-affected tissues of different GBA1 genotypes...
2024: Frontiers in Pharmacology
https://read.qxmd.com/read/38413480/a-review-of-type-3-gaucher-disease-unique-neurological-manifestations-and-advances-in-treatment
#12
REVIEW
Wei Zhong, Dan Li, Yue Fei, Pan Hong
Gaucher disease (GD) is a rare lysosomal storage disease that is caused by mutations in the GBA gene. It is classified into three main phenotypes according to the patient's clinical presentation. Of these, chronic neuronopathic GD (GD3) is characterized by progressive neurological damage. Understanding the unique neurological manifestations of GD3 has important diagnostic and therapeutic implications. Our article summarizes the neurological symptoms specific to GD3 and related therapeutic advances, and it highlights the relevance of the gene to clinical symptoms, so as to provide a reference for the diagnosis and treatment of GD3...
February 28, 2024: Acta Neurologica Belgica
https://read.qxmd.com/read/38406552/the-use-of-ambroxol-for-the-treatment-of-gaucher-disease-a-systematic-review
#13
REVIEW
Diego Agustín Abelleyra Lastoria, Simranjeet Grewal, Derralynn Hughes
Gaucher disease (GD) is a heterogeneous condition requiring tailored treatment approaches. The aim of this systematic review was to synthesise and evaluate current evidence pertaining to the use of Ambroxol for the treatment of GD. Published and unpublished literature databases, conference proceedings and the reference lists of included studies were searched until 23 November 2023. A narrative synthesis was performed. Database search and risk of bias assessment were performed independently by two reviewers...
February 2024: EJHaem
https://read.qxmd.com/read/38392204/a-smooth-muscle-cell-based-ferroptosis-model-to-evaluate-iron-chelating-molecules-for-cardiovascular-disease-treatment
#14
JOURNAL ARTICLE
Sarah El Hajj, Laetitia Canabady-Rochelle, Isabelle Fries-Raeth, Caroline Gaucher
Dysregulation of iron homeostasis causes iron-mediated cell death, recently described as ferroptosis. Ferroptosis is reported in many chronic diseases, such as hepatic cancer, renal, and cardiovascular diseases (heart failure, atherosclerosis). However, there is a notable scarcity of research studies in the existing literature that explore treatments capable of preventing ferroptosis. Additionally, as far as the author is aware, there is currently no established model for studying ferroptosis within cardiovascular cells, which would be essential for assessing metal-chelating molecules with the potential ability to inhibit ferroptosis and their application in the treatment of cardiovascular diseases...
February 4, 2024: Current Issues in Molecular Biology
https://read.qxmd.com/read/38391334/glucose-6-phosphate-dehydrogenase-deficiency-with-coinherited-gaucher-disease-a-rare-association
#15
JOURNAL ARTICLE
Nupur Parakh, Kusha Sharma, Sunita Sharma, Priti Chatterjee, Varinder Singh
Anemia coexisting with Gaucher disease (GD) is often associated with non-hemolytic processes. Few cases of GD with autoimmune hemolytic anemia have been reported. However, literature on GD with concomitant nonimmune hemolytic anemia is scarce. A 1-year 6-month-old male child presented in 2018 with complaints of palpable mass in left upper abdomen, fever, cough, and vomiting. On examination, he had pallor, hepatosplenomegaly of 2 cm and 8 cm below costal margin, respectively. A clinical diagnosis of hemolytic anemia was suspected...
July 6, 2023: Indian Journal of Pathology & Microbiology
https://read.qxmd.com/read/38384246/enhancing-access-to-treatment-for-gaucher-disease-in-india-the-need-for-indigenous-manufacturing
#16
JOURNAL ARTICLE
Nidhi Patel, Heta Pandya, Ganesh Sangle, Mohua Chakraborty Choudhury
Gaucher disease (GD) is a prevalent lysosomal storage disorder (LSD) that significantly impacts individuals' lives. However, the exorbitant prices of GD medications pose a major hurdle in ensuring widespread availability and affordability of treatment in India. The country heavily relies on imported medications, leading to high costs and limited access for many patients. This article aims to address this issue by advocating for the establishment of indigenous manufacturing capabilities for GD medicines in India...
2024: Journal of Biosciences
https://read.qxmd.com/read/38376675/-bone-pain-and-spleno-megaly-gaucher-s-disease
#17
JOURNAL ARTICLE
Martin Merkel
No abstract text is available yet for this article.
February 2024: MMW Fortschritte der Medizin
https://read.qxmd.com/read/38368939/lysosomal-storage-impaired-autophagy-and-innate-immunity-in-gaucher-and-parkinson-s-diseases-insights-for-drug-discovery
#18
REVIEW
Alexander Hull, Magda L Atilano, Laith Gergi, Kerri J Kinghorn
Impairment of autophagic-lysosomal pathways is increasingly being implicated in Parkinson's disease (PD). GBA1 mutations cause the lysosomal storage disorder Gaucher disease (GD) and are the commonest known genetic risk factor for PD. GBA1 mutations have been shown to cause autophagic-lysosomal impairment. Defective autophagic degradation of unwanted cellular constituents is associated with several pathologies, including loss of normal protein homeostasis, particularly of α-synuclein, and innate immune dysfunction...
April 8, 2024: Philosophical Transactions of the Royal Society of London. Series B, Biological Sciences
https://read.qxmd.com/read/38365689/assessing-the-diagnostic-utility-of-the-gaucher-earlier-diagnosis-consensus-ged-c-scoring-system-using-real-world-data
#19
JOURNAL ARTICLE
Shoshana Revel-Vilk, Varda Shalev, Aidan Gill, Ora Paltiel, Orly Manor, Avraham Tenenbaum, Liat Azani, Gabriel Chodick
BACKGROUND: Gaucher disease (GD) is a rare autosomal recessive condition associated with clinical features such as splenomegaly, hepatomegaly, anemia, thrombocytopenia, and bone abnormalities. Three clinical forms of GD have been defined based on the absence (type 1, GD1) or presence (types 2 and 3) of neurological signs. Early diagnosis can reduce the likelihood of severe, often irreversible complications. The aim of this study was to validate the ability of factors from the Gaucher Earlier Diagnosis Consensus (GED-C) scoring system to discriminate between patients with GD1 and controls using real-world data from electronic patient medical records from Maccabi Healthcare Services, Israel's second-largest state-mandated healthcare provider...
February 16, 2024: Orphanet Journal of Rare Diseases
https://read.qxmd.com/read/38363061/phase-1-healthy-volunteer-study-of-al01211-an-oral-non-brain-penetrant-glucosylceramide-synthase-inhibitor-to-treat-fabry-disease-and-type-1-gaucher-disease
#20
JOURNAL ARTICLE
Michael Babcock, Jianhong Zheng, Jessica Gail Shurr, Li Li, Bing Wang, Pedro Huertas, Philip John Ryan, Yuqiao Shen, Marvin Garovoy
Glycosphingolipid (GSL) storage diseases are caused by deficiencies in the enzymes that metabolize different GSLs in the lysosome. Glucosylceramide synthase (GCS) inhibitors reduce GSL production and have potential to treat multiple GSL storage diseases. AL01211 is a potent, oral GCS inhibitor being developed for the treatment of Type 1 Gaucher disease and Fabry disease. AL01211 has minimal central nervous system penetration, allowing for treatment of peripheral organs without risking CNS-associated adverse effects...
February 16, 2024: Clinical Pharmacology in Drug Development
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