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Lysosomal storage disease

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https://www.readbyqxmd.com/read/29656334/four-gaucher-disease-type-ii-patients-with-three-novel-mutations-a-single-centre-experience-from-turkey
#1
Fatma Derya Bulut, Deniz Kör, Berna Şeker-Yılmaz, Özlem Hergüner, Serdar Ceylaner, Ferda Özkınay, Sebile Kılavuz, Neslihan Önenli-Mungan
Gaucher disease is the most common lysosomal storage disorder due to glucosylceramidase enzyme deficiency. There are three subtypes of the disease. Neurological involvement accompanies visceral and haematological findings only in type II and type III Gaucher patients. Type II is the acute progressive neuronopathic form which is the most severe and rare subtype. Clinical findings are recognized prenatally or in the first months of life and followed by death within the first two years of age. Among our 81 Gaucher patients, we identified 4 (4,9%) type II patients in our metabolic centre...
April 14, 2018: Metabolic Brain Disease
https://www.readbyqxmd.com/read/29655638/attenuation-of-the-niemann-pick-type-c2-disease-phenotype-by-intracisternal-administration-of-an-aavrh-10-vector-expressing-npc2
#2
Sandra Markmann, Jasmine Reid, Jonathan B Rosenberg, Bishnu P De, Stephen M Kaminsky, Ronald G Crystal, Dolan Sondhi
Niemann-Pick type C2 (NPC2) disease is a rare, neurodegenerative disorder caused by mutations in the NPC2 gene, leading to lysosomal accumulation of unesterified cholesterol and other lipids. It is characterized by hepatosplenomegaly, liver dysfunction and severe neurological manifestations, resulting in early death. There is no effective therapy for NPC2 disease. Here, we evaluated the effectiveness of an adeno-associated virus (AAV), serotype rh.10 gene transfer vector expressing the mouse Npc2 gene (AAVrh...
April 12, 2018: Experimental Neurology
https://www.readbyqxmd.com/read/29626102/identification-of-unusual-oxysterols-and-bile-acids-with-7-oxo-or-3%C3%AE-5%C3%AE-6%C3%AE-trihydroxy-functions-in-human-plasma-by-charge-tagging-mass-spectrometry-with-multistage-fragmentation
#3
William J Griffiths, Ian Gilmore, Eylan Yutuc, Jonas Abdel-Khalik, Peter J Crick, Thomas Hearn, Alison Dickson, Brian W Bigger, Teresa Hoi-Yee Wu, Anu Goenka, Arunabha Ghosh, Simon A Jones, Yuqin Wang
7-Oxocholesterol (7-OC), 5,6-epoxycholesterol (5,6-EC) and its hydrolysis product cholestane-3β,5α,6β-triol (3β,5α,6β-triol) are normally minor oxysterols in human samples, however, in disease their levels may be greatly elevated. This is the case in plasma from patients suffering from some lysosomal storage disorders e.g. Niemann Pick disease type C, or the inborn errors of sterol metabolism e.g. Smith-Lemli-Opitz syndrome and cerebrotendinous xanthomatosis. A complication in the analysis of 7-OC and 5,6-EC is that they can also be formed ex vivo from cholesterol during sample handling in air causing confusion with molecules formed in vivo...
April 6, 2018: Journal of Lipid Research
https://www.readbyqxmd.com/read/29623914/heterozygous-carriers-of-galactocerebrosidase-mutations-that-cause-krabbe-disease-have-impaired-microglial-function-and-defective-repair-of-myelin-damage
#4
REVIEW
Nicole J Scott-Hewitt, Christopher J Folts, Mark D Noble
This review addresses two puzzling findings related to mutations in galactocerebrosidase (GALC) that cause Krabbe disease (KD), a severe lysosomal storage disorder characterized by extensive myelin damage in children with mutations in both GALC alleles. First, heterozygous carriers of KD-causing mutations, which include the biological parents of children with KD, exhibit increased risk for developing other diseases. Second, variants in the GALC locus increase the risk of developing multiple sclerosis (MS), another disease characterized by extensive myelin damage...
March 2018: Neural Regeneration Research
https://www.readbyqxmd.com/read/29623569/advances-in-computer-assisted-syndrome-recognition-by-the-example-of-inborn-errors-of-metabolism
#5
Jean T Pantel, Max Zhao, Martin A Mensah, Nurulhuda Hajjir, Tzung-Chien Hsieh, Yair Hanani, Nicole Fleischer, Tom Kamphans, Stefan Mundlos, Yaron Gurovich, Peter M Krawitz
Significant improvements in automated image analysis have been achieved in recent years and tools are now increasingly being used in computer-assisted syndromology. However, the ability to recognize a syndromic facial gestalt might depend on the syndrome and may also be confounded by severity of phenotype, size of available training sets, ethnicity, age, and sex. Therefore, benchmarking and comparing the performance of deep-learned classification processes is inherently difficult. For a systematic analysis of these influencing factors we chose the lysosomal storage diseases mucolipidosis as well as mucopolysaccharidosis type I and II that are known for their wide and overlapping phenotypic spectra...
April 5, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29618310/genetics-and-gene-therapy-in-hunter-disease
#6
Sestito Simona, Francesca Falvo, Rosalbina Apa, Licia Pensabene, Giuseppe Bonapace, Maria Teresa Moricca, Daniela Concolino
Mucopolysaccharidosis type II or Hunter syndrome is a rare X-linked lysosomal storage disorder due to a mutation in the gene encoding the lysosomal enzyme iduronate-2-sulfatase. The consequent enzyme deficiency leads to a progressive, multisystem accumulation of glycosaminoglycans throughout the body, which is the cause of the clinical manifestations involving also Central Nervous System for patients with the severe form of disease. The limits of the current available therapies for Hunter syndrome, hematopoietic stem cell transplantation and recombinant enzyme replacement therapy, mainly regarding brain achievement, encouraged several studies which recognized gene therapy as a potential therapeutic option for this condition...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29618309/genetics-and-gene-therapy-of-anderson-fabry-disease
#7
Irene Simonetta, Antonino Tuttolomondo, Tiziana Di Chiara, Salvatore Miceli
Fabry's disease is a genetic disorder of X-linked inheritance caused by mutations in the alpha galactosidase A gene resulting in deficiency of this lysosomal enzyme. The progressive accumulation of glycosphingolipids, caused by the inadequate enzymatic activity, is responsible of organ dysfunction and thus of clinical manifestations. In presence of a high clinical suspicion, a careful physical examination and specific laboratory tests are required, finally diagnosis of Fabry's disease is confirmed by demonstration of absence or reduced alpha galactosidase A enzyme activity in hemizygous men and gene typing in heterozygous females; in fact the performance of enzymatic activity assay alone in women is inconclusive...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29618308/genetics-and-therapies-for-gm2-gangliosidosis
#8
María Begona Cachon-Gonzalez, Eva Zaccariotto, Timothy Martin Cox
Tay-Sachs disease, caused by impaired β-N-acetylhexosaminidase activity, was the first GM2 gangliosidosis to be studied and one of the most severe and earliest lysosomal diseases to be described. The condition, associated with the pathological build-up of GM2 ganglioside, has acquired almost iconic status and serves as a paradigm in the study of lysosomal storage diseases. Inherited as a classical autosomal recessive disorder, this global disease of the nervous system induces developmental arrest with regression of attained milestones; neurodegeneration progresses rapidly to cause premature death in young children...
April 4, 2018: Current Gene Therapy
https://www.readbyqxmd.com/read/29615819/unfolded-protein-response-is-activated-in-krabbe-disease-in-a-manner-dependent-on-the-mutation-type
#9
Kaori Irahara-Miyana, Takanobu Otomo, Hidehito Kondo, Mohammad Arif Hossain, Keiichi Ozono, Norio Sakai
Krabbe disease, one of the autosomal-recessive lysosomal storage disorders (LSDs), is caused by a deficiency of galactocerebrosidase (GALC) activity, resulting in the intracellular accumulation of psychosine, which is cytotoxic for neuronal cells. Genetically pathogenic mutations result in conformational changes in GALC and disrupt the lysosmal trafficking of cargos, which subsequently accumulate in the endoplasmic reticulum (ER). Recently, ER stress together with the activation of the unfolded protein response (UPR) has been suggested to play a key role in the pathogenesis of LSDs...
April 3, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29610006/-type-3-gaucher-disease-also-an-adult-disease
#10
A Leurs, A Chepy, C Detonellaere, L Pascal, P Gallois, T-A-C Tran, C Caillaud, P-Y Hatron, C Rose
INTRODUCTION: Gaucher disease is a genetic lysosomal storage disorder due to a glucocerebrosidase deficiency. Type 3, including neurological impairment, may have a specific phenotype in the context of the D409H mutation. OBSERVATION: We report the case of a 22-year-old woman who presented with Gaucher disease. Enzyme replacement therapy by imiglucerase was followed by rapid clinical and biological improvement. However, communication difficulties, which were initially attributed to the language barrier, revealed neurological impairment...
March 30, 2018: La Revue de Médecine Interne
https://www.readbyqxmd.com/read/29606505/prevention-of-photoreceptor-cell-loss-in-a-cln6-nclf-mouse-model-of-batten-disease-requires-cln6-gene-transfer-to-bipolar-cells
#11
Sophia-Martha Kleine Holthaus, Joana Ribeiro, Laura Abelleira-Hervas, Rachael A Pearson, Yanai Duran, Anastasios Georgiadis, Robert D Sampson, Matteo Rizzi, Justin Hoke, Ryea Maswood, Selina Azam, Ulrich F O Luhmann, Alexander J Smith, Sara E Mole, Robin R Ali
The neuronal ceroid lipofuscinoses (NCLs) are inherited lysosomal storage disorders characterized by general neurodegeneration and premature death. Sight loss is also a major symptom in NCLs, severely affecting the quality of life of patients, but it is not targeted effectively by brain-directed therapies. Here we set out to explore the therapeutic potential of an ocular gene therapy to treat sight loss in NCL due to a deficiency in the transmembrane protein CLN6. We found that, although Cln6nclf mice presented mainly with photoreceptor degeneration, supplementation of CLN6 in photoreceptors was not beneficial...
March 2, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29606503/a-blood-brain-barrier-penetrating-anti-human-transferrin-receptor-antibody-fusion-protein-for-neuronopathic-mucopolysaccharidosis-ii
#12
Hiroyuki Sonoda, Hideto Morimoto, Eiji Yoden, Yuri Koshimura, Masafumi Kinoshita, Galina Golovina, Haruna Takagi, Ryuji Yamamoto, Kohtaro Minami, Akira Mizoguchi, Katsuhiko Tachibana, Tohru Hirato, Kenichi Takahashi
Mucopolysaccharidosis II (MPS II) is an X-linked recessive lysosomal storage disease caused by mutations in the iduronate-2-sulfatase (IDS) gene. Since IDS catalyzes the degradation of glycosaminoglycans (GAGs), deficiency in this enzyme leads to accumulation of GAGs in most cells in all tissues and organs, resulting in severe somatic and neurological disorders. Although enzyme replacement therapy with human IDS (hIDS) has been used for the treatment of MPS II, this therapy is not effective for defects in the CNS mainly because the enzyme cannot cross the blood-brain barrier (BBB)...
March 6, 2018: Molecular Therapy: the Journal of the American Society of Gene Therapy
https://www.readbyqxmd.com/read/29606333/echocardiographic-assessment-of-patients-with-fabry-disease
#13
REVIEW
Darwin F Yeung, Sandra Sirrs, Michael Y C Tsang, Kenneth Gin, Christina Luong, John Jue, Parvathy Nair, Pui K Lee, Teresa S M Tsang
Fabry disease is an X-linked lysosomal storage disorder that results from a deficiency of α-galactosidase A. Increased left ventricular wall thickness has been the most commonly described cardiovascular manifestation of the disease. However, a variety of other structural and functional abnormalities have also been reported. Echocardiography is an effective noninvasive method of assessing the cardiac involvement of Fabry disease. A more precise and comprehensive characterization of Fabry cardiomyopathy using conventional and novel echocardiographic techniques may lead to earlier diagnosis, more accurate prognostication, and timely treatment...
March 29, 2018: Journal of the American Society of Echocardiography
https://www.readbyqxmd.com/read/29606097/mucopolysaccharidosis-iiib-and-mild-skeletal-anomalies-coexistence-of-naglu-and-cyp26b1-missense-variations-in-the-same-patient-in-a-chinese-family
#14
Jinliang Li, Han Xie, Yuwu Jiang
BACKGROUND: Sanfilippo type B syndrome (mucopolysac-charidosis type IIIB; MPS IIIB) is an autosomal recessive lysosomal storage disorder. It is caused by a critically reduced α-2-acetamido-2-deoxy-D-glucoside acetamidodeoxy glucohydrolase (α-N-acetylglucosaminidase or NAGLU) activity. Recently, an autosomal recessive disorder of skeletal dysplasia associated with CYP26B1 was reported in three families, in which the patients were all homozygous variations. However, the co-occurrence of two rare diseases in a person is very rare...
April 2, 2018: BMC Medical Genetics
https://www.readbyqxmd.com/read/29602947/high-risk-screening-for-gaucher-disease-in-patients-with-neurological-symptoms
#15
Ken Momosaki, Jun Kido, Shirou Matsumoto, Shinichiro Yoshida, Atsuko Takei, Takuya Miyabayashi, Keishin Sugawara, Fumio Endo, Kimitoshi Nakamura
Gaucher disease (GD) is an autosomal recessive lysosomal storage disorder caused by the deficiency of glucocerebrosidase enzyme activity. Clinical phenotypes of GD are categorized into three groups: (i) non-neuronopathic GD (type 1), (ii) acute neuronopathic GD (type 2) and (iii) subacute neuronopathic GD (type 3). The high-risk screening of neuronopathic GD has been performed using an enzymatic assay on the dried blood spot (DBS) samples. We enrolled a total of 102 individuals (47 females, 55 males; 0-57 years old; median age 10...
March 30, 2018: Journal of Human Genetics
https://www.readbyqxmd.com/read/29602400/targeting-glucosylceramide-synthesis-in-the-treatment-of-rare-and-common-renal-disease
#16
REVIEW
James A Shayman
Sphingolipids, including ceramides, glycosphingolipids, sphingomyelin, and sphingosine-1-phosphate, have been recognized as important molecules that regulate critical cellular functions. Although originally studied in the context of lysosomal storage diseases, the roles of these compounds in more common disorders involving metabolism, vascular disease, and aberrant growth has been the focus of recent studies, including in disorders that affect the kidneys. These efforts have led to new insights into Fabry disease, a classic disorder of lysosomal function that results in renal failure as well as in more common renal diseases including diabetic nephropathy and polycystic kidney disease...
March 2018: Seminars in Nephrology
https://www.readbyqxmd.com/read/29600496/allogeneic-hematopoietic-cell-transplantation-in-farber-disease
#17
Karoline Ehlert, Thierry Levade, Maja Di Rocco, Edoardo Lanino, Michael H Albert, Monika Führer, Andrea Jarisch, Tayfun Güngör, Francis Ayuk, Josef Vormoor
BACKGROUND: Farber disease (FD) is a rare, lysosomal storage disorder caused by deficient acid ceramidase activity. FD has long been considered a fatal disorder with death in the first three decades of life resulting either from respiratory insufficiency as a consequence of airway involvement or from progressive neurodegeneration because of nervous system involvement. Peripheral symptoms associated with FD, including inflammatory joint disease, have been described to improve relatively rapidly after hematopoietic cell transplantation (HCT)...
March 29, 2018: Journal of Inherited Metabolic Disease
https://www.readbyqxmd.com/read/29597028/revisiting-glycoside-hydrolase-family-20-%C3%AE-n-acetyl-d-hexosaminidases-crystal-structures-physiological-substrates-and-specific-inhibitors
#18
REVIEW
Tian Liu, Yanwei Duan, Qing Yang
Glycoside hydrolase family 20 β-N-acetyl-d-hexosaminidases (GH20s) catalyze the hydrolysis of glycosidic linkages in glycans, glycoproteins and glycolipids. The diverse substrates of GH20s account for their various roles in many important bioprocesses, such as glycoprotein modification, glycoconjugate metabolism, gamete recognition and chitin degradation in fungal cell walls and arthropod exoskeletons. Defects in human GH20s cause lysosomal storage diseases, Alzheimer's disease and osteoarthritis. Similarly, lower levels of GH20s arrest arthropod molting...
March 26, 2018: Biotechnology Advances
https://www.readbyqxmd.com/read/29595653/type-i-gaucher-disease-with-bullous-pemphigoid-and-parkinson-disease-a-case-report
#19
Damien Le Peillet, Virginie Prendki, Véronique Trombert, Emmanuel Laffitte, Frédéric Assal, Jean Luc Reny, Christine Serratrice
RATIONALE: Gaucher disease (GD) is a rare genetic lysosomal storage disorder inherited in an autosomal recessive pattern. GD is due to the deficiency of a lysosomal enzyme, acid beta-glucosidase (or glucocerebrosidase). Type 1 Gaucher disease (GD1) is characterized by thrombocytopenia, anemia, an enlarged spleen, and liver as well as bone complications (Erlenmeyer flask deformity, osteoporosis, lytic lesions, pathological and vertebral fractures, bone infarcts, and avascular necrosis leading to degenerative arthropathy)...
March 2018: Medicine (Baltimore)
https://www.readbyqxmd.com/read/29594646/newborn-screening-for-pompe-disease-impact-on-families
#20
B Pruniski, E Lisi, N Ali
Pompe disease (PD) is an autosomal recessive lysosomal storage disorder causing progressive glycogen accumulation in muscles, with variability in age of onset and severity. For infantile-onset PD (IOPD), initiation of early treatment can be life-saving; however, current newborn screening (NBS) technology cannot distinguish IOPD from late-onset PD (LOPD) without clinical workup. Therefore, families of LOPD infants diagnosed by NBS may now spend years or even decades aware of their illness before symptoms appear, creating a pre-symptomatic awareness phase with which the medical community has little experience...
March 28, 2018: Journal of Inherited Metabolic Disease
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