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Related Concept Videos

Lysosomal Hydrolases01:22

Lysosomal Hydrolases

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,...
Neural Regulation01:37

Neural Regulation

Digestion begins with a cephalic phase that prepares the digestive system to receive food. When our brain processes visual or olfactory information about food, it triggers impulses in the cranial nerves innervating the salivary glands and stomach to prepare for food.
Huntington Disease l: Introduction01:21

Huntington Disease l: Introduction

Huntington disease or HD is a progressive, fatal neurodegenerative disorder inherited in an autosomal dominant pattern.PathophysiologyIt is caused by expansion of the CAG trinucleotide repeat in the HTT gene on chromosome 4 (4p16.3), producing an abnormal huntingtin protein with an expanded polyglutamine tract. This misfolded protein disrupts cellular function, leading to neuronal death. Normal alleles have ≤26 repeats, 27–35 are intermediate (risk of expansion), 36–39 show reduced penetrance,...
Necrosis01:16

Necrosis

Necrosis is considered as an “accidental” or unexpected form of cell death that ends in cell lysis. The first noticeable mention of “necrosis” was in 1859 when Rudolf Virchow used this term to describe advanced tissue breakdown in his compilation titled “Cell Pathology”.
Morphological Manifestations of Necrosis
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Protein Import into the Peroxisomes01:27

Protein Import into the Peroxisomes

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.
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Nervous Tissue: Myelin01:25

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The myelin sheath is a multilayered lipid and protein covering that insulates the axon of a neuron, enhancing the speed of nerve impulse conduction. Axons without this sheath are referred to as unmyelinated. Two types of neuroglia, Schwann cells in the peripheral nervous system (PNS) and oligodendrocytes in the central nervous system (CNS) are responsible for producing myelin sheaths.
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Related Experiment Video

Updated: Jun 27, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

Neuronal ceroid lipofuscinoses.

Anu Jalanko1, Thomas Braulke

  • 1National Public Health Institute, Department of Molecular Medicine and FIMM, Institute for Molecular Medicine Finland, Biomedicum, PO 104, 00251 Helsinki, Finland. Anu.Jalanko@ktl.fi

Biochimica Et Biophysica Acta
|December 17, 2008
PubMed
Summary
This summary is machine-generated.

Neuronal ceroid lipofuscinoses (NCL) are childhood neurodegenerative lysosomal storage disorders caused by gene mutations. This review covers NCL proteins, disease characteristics, and pathogenetic mechanisms in animal models.

Related Experiment Videos

Last Updated: Jun 27, 2026

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells
08:53

Assay to Measure Nucleocytoplasmic Transport in Real Time within Motor Neuron-like NSC-34 Cells

Published on: May 16, 2017

Area of Science:

  • Biochemistry
  • Genetics
  • Neuroscience

Background:

  • Neuronal ceroid lipofuscinoses (NCL) are severe, inherited neurodegenerative lysosomal storage disorders affecting children.
  • Characterized by autofluorescent ceroid lipopigment accumulation in cells, NCLs result from mutations in at least ten human genes.
  • NCL proteins, localized to the endoplasmic reticulum or endosomal/lysosomal organelles, are crucial for central nervous system function.

Purpose of the Study:

  • To review current knowledge on NCL proteins and their functions.
  • To summarize the basic characteristics of different NCL subtypes.
  • To explore pathogenetic mechanisms using studies of animal models.

Main Methods:

  • Genomic analysis to identify NCL-associated genes.
  • Characterization of NCL protein functions and localization.
  • Pathological studies in animal models to understand disease mechanisms.
  • Evaluation of therapeutic strategies in NCL mouse models.

Main Results:

  • Eight of ten NCL genes have been characterized, encoding diverse proteins.
  • Common clinical features suggest functional links between NCL proteins.
  • Neurodegeneration in cerebral and cerebellar cortices is a hallmark of all NCL subtypes.
  • Animal models show early glial activation preceding neuron loss.

Conclusions:

  • Understanding NCL protein function is critical for elucidating disease pathogenesis.
  • Animal models are valuable tools for studying NCL pathology and testing therapies.
  • Genomic advancements provide new insights into the NCL field.
  • Further research is needed to fully understand the roles of NCL proteins and develop effective treatments.