Polyunsaturated fatty acids reverse the lysosomal storage and accumulation of subunit 9 of mitochondrial F1F0-ATP synthase in cultured lymphoblasts from patients with Batten disease

Journal of Inherited Metabolic Disease

Volumn 20, Issue 3, 1997, Pages 457-460

  Bennett, M J ^a,c   Boriack, R L ^a   Boustany, R M ^b  

^a UNIVERSITY OF TEXAS SOUTHWESTERN MEDICAL CENTER   (United States)

^b DUKE UNIVERSITY   (United States)

^c CHILDREN S MEDICAL CENTER   (United States)

Author keywords

[No Author keywords available]

Indexed keywords

GENTAMICIN; POLYUNSATURATED FATTY ACID; PROTEIN; PROTON TRANSPORTING ADENOSINE TRIPHOSPHATE SYNTHASE;

AMINO ACID SEQUENCE; BIOACCUMULATION; CELL CULTURE; CONFERENCE PAPER; CONTROLLED STUDY; ENZYME SUBUNIT; HUMAN; HUMAN CELL; LYMPHOBLAST; LYSOSOME STORAGE DISEASE; MOLECULAR WEIGHT; NEURONAL CEROID LIPOFUSCINOSIS;

CELL LINE; ENZYME INHIBITORS; FATTY ACIDS, UNSATURATED; GENTAMICINS; HUMANS; INFANT, NEWBORN; LYMPHOCYTES; MITOCHONDRIA; NEURONAL CEROID-LIPOFUSCINOSES; PROTON-TRANSLOCATING ATPASES;

EID: 0030846368     PISSN: 01418955     EISSN: None     Source Type: Journal    
DOI: 10.1023/A:1005387608456     Document Type: Conference Paper

References (10)

1. Bennett MJ, Boriack RL, Birch BG (1997) In vitro and post-delivery supplementation of motor neuron degeneration mutant mice with polyunsaturated fatty acids. Neuropediatrics, in press.
2. Boriack RL, Cortinas E, Bennett MJ (1995) Mitochondrial damage results in a reversible increase in lysosomal storage material in lymphoblasts from patients with juvenile neuronal ceroid-lipofuscinosis (Batten disease). Am J Med Genet 57: 301-303.
3. Das AM, Kohlschutter A (1996) Decreased activity of the mitochondrial ATP synthase in fibroblasts from children with late-infantile and juvenile neuronal ceroid lipofuscinosis. J Inher Metab Dis 19: 130-132.
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7. Kohlschutter A, Gardiner RM, Goebel HH (1993) Human forms of neuronal ceroid-lipofuscinosis (Batten disease): consensus on diagnostic criteria. Hamburg 1992. J Inher Metab Dis 16: 241-244.
8. Lerner TJ and The International Batten Disease Consortium (1995) Isolation of a novel gene underlying Batten disease, CLN3. Cell 82: 949-957.
9. Palmer DN, Fearnley IM, Walker JE, et al (1992) Mitochondrial ATP synthase subunit C storage in ceroid-lipofuscinosis (Batten disease). Am J Med Genet 42: 561-567.
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