Literature DB >> 10191125

A new locus for variant late infantile neuronal ceroid lipofuscinosis-CLN7.

R B Wheeler1, J D Sharp, W A Mitchell, S L Bate, R E Williams, B D Lake, R M Gardiner.   

Abstract

To date two genes are known to be involved in variant LINCL, CLN5 and CLN6, which map to chromosomes 13q21 and 15q21-23. A subset of Turkish families with a variant phenotype has been identified. Affected individuals have curvilinear bodies and fingerprint profiles on EM but are recombinant at CLN5 and CLN6. These families appear to represent a new locus. Homozygosity mapping is being used to map this locus, which has been designated CLN7. Copyright 1999 Academic Press.

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Year:  1999        PMID： 10191125     DOI： 10.1006/mgme.1999.2804

Source DB:  PubMed          Journal:  Mol Genet Metab        ISSN： 1096-7192            Impact factor:   4.797


  10 in total

Review 1.  Genetics of childhood epilepsy.

Authors:  R Robinson; M Gardiner
Journal:  Arch Dis Child       Date:  2000-02       Impact factor: 3.791

Review 2.  [Adult-onset neuronal ceroid lipofuscinosis].

Authors:  H J Gdynia; A D Sperfeld; A C Ludolph
Journal:  Nervenarzt       Date:  2007-02       Impact factor: 1.214

Review 3.  Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.

Authors:  Sara E Mole; Ruth E Williams; Hans H Goebel
Journal:  Neurogenetics       Date:  2005-09-28       Impact factor: 2.660

Review 4.  Emptying the stores: lysosomal diseases and therapeutic strategies.

Authors:  Frances M Platt
Journal:  Nat Rev Drug Discov       Date:  2017-11-17       Impact factor: 84.694

5.  Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse.

Authors:  Hanlin Gao; Rose-Mary N Boustany; Janice A Espinola; Susan L Cotman; Lakshmi Srinidhi; Kristen Auger Antonellis; Tammy Gillis; Xuebin Qin; Shumei Liu; Leah R Donahue; Roderick T Bronson; Jerry R Faust; Derek Stout; Jonathan L Haines; Terry J Lerner; Marcy E MacDonald
Journal:  Am J Hum Genet       Date:  2001-12-21       Impact factor: 11.025

6.  The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter.

Authors:  Eija Siintola; Meral Topcu; Nina Aula; Hannes Lohi; Berge A Minassian; Andrew D Paterson; Xiao-Qing Liu; Callum Wilson; Ulla Lahtinen; Anna-Kaisa Anttonen; Anna-Elina Lehesjoki
Journal:  Am J Hum Genet       Date:  2007-05-14       Impact factor: 11.025

Review 7.  Interactions of the proteins of neuronal ceroid lipofuscinosis: clues to function.

Authors:  Amanda L Getty; David A Pearce
Journal:  Cell Mol Life Sci       Date:  2010-08-01       Impact factor: 9.207

8.  Genetics of inherited human epilepsies.

Authors:  I Gourfinkel-An; S Baulac; A Brice; E Leguern; M Baulac
Journal:  Dialogues Clin Neurosci       Date:  2001-03       Impact factor: 5.986

Review 9.  Neuronal ceroid lipofuscinosis in the South American-Caribbean region: An epidemiological overview.

Authors:  Guillermo Guelbert; Ana Clara Venier; Ines Adriana Cismondi; Adriana Becerra; Juan Carlos Vazquez; Elmer Andrés Fernández; Ana Lucía De Paul; Norberto Guelbert; Ines Noher; Favio Pesaola
Journal:  Front Neurol       Date:  2022-08-12       Impact factor: 4.086

10.  Analysis of NCL Proteins from an Evolutionary Standpoint.

Authors:  Neda E Muzaffar; David A Pearce
Journal:  Curr Genomics       Date:  2008-04       Impact factor: 2.236
  10 in total

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