Lysosomal Storage Disorder
ESCRT-Dependent Cell Death in a Caenorhabditis elegans Model of the Lysosomal Storage Disorder Mucolipidosis Type IV
... neurodegenerative lysosomal storage disorder Mucolipidosis type ...show lysosomal dysfunction in many tissues and neuronal cell ...in lysosomal dysfunction in many tissues and death of ...
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Neuronal network dysfunction precedes storage and neurodegeneration in a lysosomal storage disorder
... Lysosomal storage disorders (LSDs) are a collection of over 70 multiorgan, progressive diseases affect- ing approximately 1 in 5000 individuals (1). The biochemical basis of many LSDs is well understood, ...
16
Relative acidic compartment volume as a lysosomal storage disorder–associated biomarker
... lating lysosomal exocytosis, which has been demonstrated in vitro ...lipid storage in response to ...of storage lipid redistribution to B cells in response to ...
10
Lysosomal storage disorder in non-immunological hydrops fetalis (NIHF) - more common than assumed? Report of four cases with transient NIHF and a review of the literature
... the lysosomal storage disorders. It can be hypothesized that lysosomal enzymes and their pathways are bi-functional and hereby different in ...
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A study of the molecular basis of the lysosomal storage disorder fucosidosis
... Fucosidosis is defined as the disease resulting from a deficiency of the lysosomal hydrolase a- fucosidase. Negligibly low residual a-fijcosidase activity has been reported in tissues, plasma, leukocytes, cultured ...
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Complement is dispensable for neurodegeneration in Niemann-Pick disease type C
... did not have the beneficial effect on neurodegeneration in NPC-diseased mice that was evident for another lysosomal storage disorder, Sandhoff disease [2]. In addition to chemokines, complement ...
8
A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline
... recessive lysosomal storage disorder (LSD) that is typically associated with severe, age-dependent neurodegeneration and premature death during early ...
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Gaucher disease and the synucleinopathies: refining the relationship
... Gaucher disease (OMIM 230800, 230900, 231000), the most common lysosomal storage disorder, is due to a deficiency in the enzyme glucocerebrosidase. Gaucher patients display a wide spectrum of ...
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Lipid and immune abnormalities causing age-dependent neurodegeneration and Parkinson’s disease
... lipid storage disease throughout many organs in the ...additional lysosomal enzymatic func- tion, where > 50% of PD patients carry a mutation in a lysosomal storage disorder gene ...
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Disease manifestations and burden of illness in patients with acid sphingomyelinase deficiency (ASMD)
... ASMD, also known as NPD types A (NPD A) and B (NPD B), is a rare autosomal recessive lysosomal storage disorder caused by mutations 1 in the ASM-encoding gene SMPD1 [1, 2]. Insufficient ASM activity ...
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A saposin deficiency model in Drosophila: Lysosomal storage, progressive neurodegeneration and sensory physiological decline
... neurodegenerative lysosomal storage disorder (LSD) that can cause premature death within three months of ...of lysosomal hydro- lases that mediate the degradation of ...the storage of ...
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A new case report of severe mucopolysaccharidosis type VII: diagnosis, treatment with haematopoietic cell transplantation and prenatal diagnosis in a second pregnancy
... inherited lysosomal storage disorder with an estimated overall frequency between 1/300,000 and 1/2,000,000 ...the lysosomal enzyme β-glucuronidase (EC ...the storage of ...
7
<p>Lysosomal Acid Lipase Deficiency: Therapeutic Options</p>
... based on the administration of sebelipase alfa – for LAL de fi ciency adds to the growing list of recombinant proteins currently available for infusion in patients with a lysosomal storage disorder ...
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mTORC1 hyperactivation arrests bone growth in lysosomal storage disorders by suppressing autophagy
... cause lysosomal storage diseases (LSDs), a group of approximately 50 rare inherited metabolic disorders ...each disorder results from mutations in different genes, they all share a common biochemical ...
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Newborn Screening for Lysosomal Storage Disorders: Clinical Evaluation of a Two-Tier Strategy
... The storage oligosaccharides in ␣ -mannosidosis are made up of different combinations of hexose (H) and N-acetyl- hexosamine (HNAc) with the following composi- tions: H2/HNAc, H3/HNAc, and ...
10
Sialic acid storage diseases A multiple lysosomal transport defect for acidic monosaccharides
... Human lysosomal membrane vesicles isolated from cultured fibroblasts showed the existence of a similar proton-driven transporter with the same properties as the rat liver system (Kt of [3H]GlcAc uptake ...acid ...
8
Mucopolysaccharidosis IIIB, a lysosomal storage disease, triggers a pathogenic CNS autoimmune response
... We have demonstrated for the first time the pathogenic property of MPS IIIB lymphocytes, a subset of which can traffic to the CNS where they promote neuroinflamma- tion with neurological impairment. The neuropathogene- ...
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Assessment of a targeted resequencing assay as a support tool in the diagnosis of lysosomal storage disorders
... Case P9 was shown to have juvenile type 2 gangliosidosis (GM2), following a delayed suspicion of a storage disorder due to the late onset and low specificity of symptoms, and slow progression of the ...
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Role of Pikfyve in Platelet Lysosomal Homeostasis
... Interestingly, this inflammatory response has not been described in mice lacking Fig4 or Vac14. This could be explained because these mice do not survive long enough to fully develop the robust tissue accumulation of ...
122
Enzyme replacement therapy for murine mucopolysaccharidosis type VII leads to improvements in behavior and auditory function
... multiple lysosomal storage dis- eases in addition to MPS VII. Lysosomal storage has been re- duced in cultured fibroblasts from patients with Hunter syn- drome (MPS II), Hurler syndrome (MPS ...
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