lysosomal storage diseases/epileptični krč

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Genetics of reflex seizures and epilepsies in humans and animals.

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Prijava / prijava

BACKGROUND Reflex seizures are epileptic events triggered by specific motor, sensory or cognitive stimulation. This comprehensive narrative review focuses on the role of genetic determinants in humans and animal models of reflex seizures and epilepsies. METHODS References were mainly identified

Type 1 sialidosis presenting with ataxia, seizures and myoclonus with no visual involvement.

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Prijava / prijava

Sialidosis is an autosomal recessive lysosomal storage disease caused by pathogenic variants in NEU1 which encodes lysosomal sialidase (neuraminidase 1). Lysosomal neuraminidase catalyzes the removal of terminal sialic acid molecules from glycolipids, glycoproteins and oligosaccharides. Sialidosis

[Medicinal therapy for lysosomal storage diseases].

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Prijava / prijava

Lysosomes contain several dozen different enzymes, mostly acid hydrolases. Materials not digested due to deficient lysosomal enzymes are usually large cellular molecules, which are deposited within the cells. The strategy for medicinal therapy of lysosomal storages disease may be to develop the

[Detection of vacuolated peripheral blood lymphocytes in screening for and diagnosis of lysosomal storage diseases].

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Prijava / prijava

OBJECTIVE Lysosomal storage diseases are a group of inherited disorders caused by deficiency of lysosomal enzymes or structural components. The manifestations of lysosomal storage diseases are complicated due to different enzyme deficiency. It has been reported that a range of metabolic diseases

Neuropathophysiology of Lysosomal Storage Diseases: Synaptic Dysfunction as a Starting Point for Disease Progression.

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Prijava / prijava

About two thirds of the patients affected with lysosomal storage diseases (LSD) experience neurological manifestations, such as developmental delay, seizures, or psychiatric problems. In order to develop efficient therapies, it is crucial to understand the neuropathophysiology underlying these

Bone marrow transplantation corrects the enzyme defect in neurons of the central nervous system in a lysosomal storage disease.

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Prijava / prijava

Neuronal storage disorders are fatal neurodegenerative diseases of humans and animals that are caused by inherited deficiencies of lysosomal hydrolase activity. Affected individuals often appear normal at birth but eventually develop progressive neurologic symptoms including sensory and motor

Lysosomal storage diseases--the horizon expands.

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Prijava / prijava

Since the discovery of the lysosome in 1955, advances have been made in understanding the key roles and functions of this organelle. The concept of lysosomal storage diseases (LSDs)--disorders characterized by aberrant, excessive storage of cellular material in lysosomes--developed following the

The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases.

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Prijava / prijava

The neuronal ceroid-lipofuscinoses (Batten disease) are a group of severe neurodegenerative disorders characterized clinically by visual loss, seizures and psychomotor degeneration, and pathologically by loss of neurons and lysosomal accumulation of autofluorescent storage material resembling ageing

Diagnostic challenge for the rare lysosomal storage disease: Late infantile GM1 gangliosidosis.

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Prijava / prijava

BACKGROUND GM1 gangliosidosis is a rare lysosomal storage disorder caused by GLB1 mutations. Because of its extreme rarity and symptoms that overlap with other neurodegenerative diseases, its diagnosis is sometimes challenging, especially in the late infantile form with less severe phenotype. We aim

Presynaptic Endosomal Cathepsin D Regulates the Biogenesis of GABAergic Synaptic Vesicles.

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Prijava / prijava

Presynaptic endosomes reportedly participate in synaptic vesicle (SV) recycling. However, it remains unclear whether they differentially regulate SV biogenesis and synaptic transmission in different types of synapses and how they are implicated in diseases. Using cryo-electron tomography and

Cerebellar Disease of Ruminants.

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Prijava / prijava

Cerebellar disease can be congenital or acquired. Clinical signs of cerebellar disease include hypermetric gait in all limbs, normal to increased muscle tone, wide-based stance, swaying, intention tremor, and convulsions. Vestibular signs may be observed. Differential diagnoses for etiology include

Proteolytic degradation of glutamate decarboxylase mediates disinhibition of hippocampal CA3 pyramidal cells in cathepsin D-deficient mice.

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Prijava / prijava

Although of clinical importance, little is known about the mechanism of seizure in neuronal ceroid lipofuscinosis (NCL). In the present study, we have attempted to elucidate the mechanism underlying the seizure of cathepsin D-deficient (CD-/-) mice that show a novel type of lysosomal storage disease

Neurological findings in Hunter disease: pathology and possible therapeutic effects reviewed.

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Prijava / prijava

Hunter disease (mucopolysaccharidosis type II, MPS II) is an X-linked lysosomal storage disease caused by deficiency of iduronate-2-sulfatase. Accumulation of chondroitin sulfate B and heparan sulfate in various tissues is the biochemical consequence of MPS II. Children with Hunter disease are

Comprehensive functional characterization of murine infantile Batten disease including Parkinson-like behavior and dopaminergic markers.

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Prijava / prijava

Infantile neuronal ceroid lipofuscinosis (INCL, Infantile Batten disease) is a neurodegenerative lysosomal storage disease caused by a deficiency in palmitoyl protein thioesterase-1 (PPT1). The PPT1-deficient mouse (Cln1(-/-)) is a useful phenocopy of human INCL. Cln1(-/-) mice display retinal

[Tripeptidyl peptidase 1 in patients with late infantile neuronal ceroid lipofuscinosis].

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Prijava / prijava

BACKGROUND Neuronal ceroid lipofuscinoses are a group of inherited autosomal recessive lysosomal diseases, most commonly found in infancy. These are neuropathologically characterised by accumulation of an autofluorescent lipopigment in neurons and other cells. This condition is clinically

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