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Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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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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Inborn Errors of Metabolism01:20

Inborn Errors of Metabolism

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Phenylketonuria (PKU) is a protein metabolism disorder characterized by high blood levels of the amino acid phenylalanine. This results from a mutation in the gene responsible for phenylalanine hydroxylase, an enzyme that converts phenylalanine into tyrosine. When this enzyme is deficient, phenylalanine builds up in the blood, leading to symptoms such as vomiting, rashes, seizures, growth deficiency, and severe mental retardation. An early diagnosis and a diet restricting phenylalanine intake...
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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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Glucose Transporters01:27

Glucose Transporters

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Glucose transporters facilitate the transport of glucose across the cell membrane. In addition to glucose, some glucose transporters can also aid the movement of other hexoses such as fructose, mannose, and galactose.
Facilitated diffusion-glucose transporters (GLUTs) are encoded by the solute-linked carrier (SLC) family 2, subfamily A gene family, or SLC2A. The 14 GLUT protein members are distributed into three classes:
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Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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Cells contain membrane-bound organelles called peroxisomes that oxidize organic molecules by transferring hydrogen atoms to oxygen, producing hydrogen peroxide. Peroxisomes enzymatically convert the released hydrogen peroxide into water and oxygen.
Peroxisomal Protein Import:
Peroxisomes lack the genetic machinery required to code for their own proteins. Hence, most peroxisomal membrane, lumenal and transmembrane proteins are synthesized in the cytoplasm or ER and transported to the peroxisome...
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Delivery Pathways to the Lysosome01:36

Delivery Pathways to the Lysosome

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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
In endocytosis, the cell membrane takes up macromolecules and particles from the surrounding medium. Clathrin-mediated...
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Updated: Dec 29, 2025

In Vitro Enzyme Measurement to Test Pharmacological Chaperone Responsiveness in Fabry and Pompe Disease
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SnapShot: Enfermedades de almacenamiento lisosomal

José A Martina1, Nina Raben1, Rosa Puertollano1

  • 1Cell and Developmental Biology Center, National Heart, Lung, and Blood Institute, National Institutes of Health, Bethesda, MD, USA.

Cell
|February 8, 2020
PubMed
Resumen

Las enfermedades de almacenamiento lisosomal (LSD) implican trastornos metabólicos hereditarios en los que los lisosomas acumulan material no degradado. Esta revisión cubre las funciones de las proteínas, la patogénesis y las terapias actuales para los LSD.

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Área de la Ciencia:

  • La bioquímica
  • La genética
  • Biología celular

Sus antecedentes:

  • Las enfermedades de almacenamiento lisosomal (LSD) son trastornos metabólicos hereditarios monogénicos.
  • Se caracteriza por la acumulación de sustratos no degradados dentro de los lisosomas.
  • Esto conduce a un deterioro de la actividad lisosómica y la homeostasis celular.

Objetivo del estudio:

  • Resumir la localización intracelular y la función de las proteínas involucradas en los LSD.
  • Describir los mecanismos patógenos comunes en las LSD.
  • Revisar las estrategias terapéuticas actuales para el LSD.

Principales métodos:

  • Revisión de la literatura y síntesis de los datos existentes.
  • Centrarse en la localización y la función de las proteínas.
  • Análisis de la patogénesis de la LSD y enfoques terapéuticos.

Principales resultados:

  • Resumen detallado de las proteínas implicadas en varios LSD.
  • Explicación de cómo la disfunción de las proteínas contribuye a la acumulación de sustrato.
  • Identificación de las vías comunes afectadas a través de diferentes LSD.

Conclusiones:

  • La comprensión de las funciones de las proteínas es crucial para la patogénesis de la LSD.
  • Las terapias actuales tienen como objetivo abordar defectos o síntomas moleculares específicos.
  • Las investigaciones adicionales sobre la función de las proteínas pueden revelar nuevos objetivos terapéuticos.