Biology of Disease

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)). X]VeiZg&+/ MEMBRANE, ORGANELLE AND CYTOSKELETAL DISORDERS 16.1 Introduction Membranes are essential for biological acti ...

16.2 Nucleus and Nucleocytoplasmic Transport The nucleus contains the genome of the cell stored as sequences of nucle- otide bas ...

NUCLEUS AND NUCLEOCYTOPLASMIC TRANSPORT CZhhVg6]bZY!BVjgZZc9Vlhdc!8]g^hHb^i]:YLddY )*& Cytoplasmic filament Central ...

X]VeiZg&+/ MEMBRANE, ORGANELLE AND CYTOSKELETAL DISORDERS )*' W^dad\nd[Y^hZVhZ X]VeiZg&+/ MEMBRANE, ORGANELLE AND CY ...

The export of proteins, transfer RNA molecules and ribosomal subunits from the nucleus to the cytoplasm appears to operate by si ...

protein is one of a group of transporters called ATP-binding cassette (ABC) proteins. These are multidomain structures: all have ...

cyclic AMP-regulated chloride channel and has been identified, cloned and sequenced and most of its mutations are known. The dec ...

and looking for differences in the sizes of the PCR products. Polyacrylamide gel electrophoresis (PAGE) can be used to separate ...

contains five protein complexes (Table 16.2) that together with cytochrome c perform the energy transduction reactions with the ...

They are associated not only with numerous mutations of the mtDNA but also mutations in nuclear genes that affect processes such ...

disease presents in midlife with a rapid bilateral loss of central vision due to atrophy of the optic nerve leading to blindness ...

reported in patients. In the UK, it is estimated that mitochondrial disorders occur with a frequency of about seven in 100 000. ...

It would appear that several different approaches to treating and managing mitochondrial disorders will be necessary. Most curre ...

are rapidly degraded leading to a severe peroxisomal deficiency. Individuals have severe abnormalities in their brain, liver and ...

Treatment largely involves supportive care and symptomatic therapy. Patients with ALD may be given Lorenzo’s oil (glyceroyl trio ...

Lysosomal storage diseases are congenital disorders that seriously reduce the quality of life and life expectancy. For example, ...

and generally failure to thrive. Hernias, hepatomegaly, joint limitation and hip dislocations are common. Patients experience fr ...

and microtubules (MT). Although the lengths of the fibers are indeterminate as they are actively extended and shortened during c ...

of proteins provides mechanical support to the sarcolemma during muscle contraction. The blood contains about 5 q 1012 erythrocy ...