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Related Concept Videos

Lysosomes01:31

Lysosomes

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Lysosomes are membrane-enclosed spherical sacs derived from the Golgi apparatus. The most important function of the lysosome is degrading macromolecules and biological polymers that are released during membrane trafficking events such as the secretory, endocytic, autophagic, and phagocytic pathways. The degradation is carried out by several hydrolytic enzymes active in an acidic environment of the lysosomal lumen. These acid hydrolases are involved in cellular processes such as cell signaling,...
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Storage01:23

Storage

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A schema is a mental framework that helps individuals organize and interpret information. Schemata, formed from previous experiences, influence how we process new information: how we encode it, the inferences we make, and how we retrieve it. For instance, a schema for what a typical classroom looks like might include desks, a teacher's desk, a whiteboard, and students in such an environment. This expectation helps us quickly understand and navigate new classrooms without needing to analyze...
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Lysosomal Hydrolases01:22

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Lysosomes are the site for the degradation of macromolecules and biological polymers released during membrane trafficking events such as secretory, endocytic, autophagic, and phagocytic pathways. The membrane-enclosed area of the lysosome, called the lumen, contains hydrolytic enzymes active in an acidic environment. These acid hydrolases are functional at a pH between 4.5 and 5 and are involved in cellular processes such as cell signaling, energy metabolism, restoration of the plasma membrane,...
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Delivery Pathways to the Lysosome01:36

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Eukaryotic cells use different mechanisms to eliminate toxic waste obsolete and worn-out substances. Lysosomes play a pivotal role in this, and hence, these substances are carried to the lysosome from other parts of the cell and extracellular space through different pathways. The most elaborately studied pathways to the lysosome are the endocytic pathways.
Endocytosis
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Intrinsically Disordered Proteins02:18

Intrinsically Disordered Proteins

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Intrinsically disordered proteins are a group of proteins that do not fold into specific three-dimensional structures. Their structural flexibility allows them to complement ordered proteins to perform functions that are inaccessible to rigid structures. They are more common in eukaryotes than prokaryotes and may either be exclusively intrinsically disordered or hybrid proteins, consisting of a mix of ordered and disordered regions. The absence of a rigid structure in these proteins can be...
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ATP Energy Storage and Release01:31

ATP Energy Storage and Release

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ATP is a highly unstable molecule. Unless quickly used to perform work, ATP spontaneously dissociates into ADP and inorganic phosphate (Pi), and the free energy released during this process is lost as heat. The energy released by ATP hydrolysis is used to perform work inside the cell and depends on a strategy called energy coupling. Cells couple the exergonic reaction of ATP hydrolysis with endergonic reactions, allowing them to proceed.
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How to Obtain Reliable Visual Event-related Potentials in Newborns
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Newborn Screening for Lysosomal Storage Disorders.

Sharon Anderson

    Journal of Pediatric Health Care : Official Publication of National Association of Pediatric Nurse Associates & Practitioners
    |April 22, 2018
    PubMed
    Summary
    This summary is machine-generated.

    Lysosomal storage disorders (LSDs) are rare inherited metabolic diseases. This article overviews seven LSDs available for newborn screening, detailing their characteristics and treatments.

    Keywords:
    Lysosomal storage disorderlysosomal storage diseaselysosomal enzyme disordernewborn screening

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    Area of Science:

    • Biochemistry
    • Genetics
    • Pediatrics

    Background:

    • Lysosomal storage disorders (LSDs) encompass approximately 50 rare inherited metabolic conditions.
    • These disorders stem from enzyme deficiencies impairing lysosome function, presenting significant variability in onset, severity, and outcomes.

    Purpose of the Study:

    • To provide an overview of LSDs for healthcare providers.
    • To detail seven specific LSDs currently included in newborn screening programs.

    Main Methods:

    • Review of existing literature on LSDs.
    • Compilation of information on enzyme deficiencies, inheritance patterns, incidence, clinical presentation, and treatment options for seven LSDs.

    Main Results:

    • Laboratory methods are available for newborn screening of seven LSDs.
    • Information on enzyme deficiency, inheritance, incidence, clinical course, and treatments is provided for each of the seven LSDs.

    Conclusions:

    • Newborn screening for LSDs is expanding, necessitating increased provider awareness.
    • Understanding the variability and specific characteristics of these seven LSDs is crucial for timely diagnosis and management.