Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse (Q24633059)

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English	Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse	scientific article

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title

Mutations in a novel CLN6-encoded transmembrane protein cause variant neuronal ceroid lipofuscinosis in man and mouse (English)

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main subject

transmembrane protein

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neuronal ceroid lipofuscinosis

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based on heuristic

inferred from title

author

Jonathan L Haines

series ordinal

14

object named as

Jonathan L Haines

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Tammy Gillis

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7

object named as

Tammy Gillis

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Marcy E. MacDonald

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16

object named as

Marcy E MacDonald

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Susan L Cotman

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4

object named as

Susan L Cotman

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Rose-Mary Boustany

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2

object named as

Rose-Mary N Boustany

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Terry J Lerner

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15

object named as

Terry J Lerner

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Roderick Bronson

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11

object named as

Roderick T Bronson

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author name string

Hanlin Gao

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1

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Janice A Espinola

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3

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Lakshmi Srinidhi

series ordinal

5

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Kristen Auger Antonellis

series ordinal

6

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Xuebin Qin

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8

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Shumei Liu

series ordinal

9

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Leah R Donahue

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10

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Jerry R Faust

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12

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Derek Stout

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13

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language of work or name

English

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publication date

February 2002

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published in

American Journal of Human Genetics

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volume

70

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issue

2

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page(s)

324-35

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cites work

The neuronal ceroid lipofuscinoses in human EPMR and mnd mutant mice are associated with mutations in CLN8

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CLN5, a novel gene encoding a putative transmembrane protein mutated in Finnish variant late infantile neuronal ceroid lipofuscinosis

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Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid Lipofuscinosis

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A model for Batten disease protein CLN3: functional implications from homology and mutations

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Defined chromosomal assignment of CLN5 demonstrates that at least four genetic loci are involved in the pathogenesis of human ceroid lipofuscinoses

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Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis

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Chromosomal localization of two genes underlying late-infantile neuronal ceroid lipofuscinosis

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Motor neuron degeneration of mice is a model of neuronal ceroid lipofuscinosis (Batten's disease)

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Isolation of a novel gene underlying Batten disease, CLN3. The International Batten Disease Consortium

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Neuronal ceroid lipofuscinosis (nclf), a new disorder of the mouse linked to chromosome 9

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Turkish variant late infantile neuronal ceroid lipofuscinosis (CLN7) may be allelic to CLN8.

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Localization and processing of CLN3, the protein associated to Batten disease: where is it and what does it do?

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The neuronal ceroid-lipofuscinoses (Batten disease): a new class of lysosomal storage diseases

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

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Genetic and physical mapping of the CLN6 gene on chromosome 15q21-23.

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Thirty years of Batten disease research: present status and future goals

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Ovine neuronal ceroid lipofuscinosis: a large animal model syntenic with the human neuronal ceroid lipofuscinosis variant CLN6.

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Loci for classical and a variant late infantile neuronal ceroid lipofuscinosis map to chromosomes 11p15 and 15q21-23.

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The neuronal ceroid lipofuscinoses

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Electron microscopic examination of skin biopsy as a cost-effective tool in the diagnosis of lysosomal storage diseases

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Isolation of a novel gene underlying batten disease, CLN3

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Crossref

reference URL

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A Neural Network Method for Identification of Prokaryotic and Eukaryotic Signal Peptides and Prediction of their Cleavage Sites

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Crossref

reference URL

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retrieved

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Identifiers

DOI

10.1086/338190

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PMC publication ID

384912

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PubMed publication ID

11791207

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ResearchGate publication ID

11567825

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