(Q24310339)

GOA release 2020-03-11

author name string

I Järvelä

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M Sainio

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T Rantamäki

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V M Olkkonen

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O Carpén

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L Peltonen

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A Jalanko

Isolation of a novel gene underlying batten disease, CLN3

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language of work or name

English

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publication date

January 1998

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published in

Human Molecular Genetics

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volume

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issue

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page(s)

85-90

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cites work

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Genomic structure and complete nucleotide sequence of the Batten disease gene, CLN3

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

BTN1, a Yeast Gene Corresponding to the Human Gene Responsible for Batten's Disease, is Not Essential for Viability, Mitochondrial Function, or Degradation of Mitochondrial ATP Synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Basic local alignment search tool

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Isolation and chromosomal mapping of a mouse homolog of the Batten disease gene CLN3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Rapid diagnostic test for the major mutation underlying Batten disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Transport of the lysosomal membrane glycoprotein lgp120 (lgp-A) to lysosomes does not require appearance on the plasma membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Accumulation of membrane glycoproteins in lysosomes requires a tyrosine residue at a particular position in the cytoplasmic tail

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

The cytoplasmic tail of the mannose 6-phosphate/insulin-like growth factor-II receptor has two signals for lysosomal enzyme sorting in the Golgi

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

A novel di-leucine motif and a tyrosine-based motif independently mediate lysosomal targeting and endocytosis of CD3 chains

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

The sequence of the major protein stored in ovine ceroid lipofuscinosis is identical with that of the dicyclohexylcarbodiimide-reactive proteolipid of mitochondrial ATP synthase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Biogenesis of mitochondrial proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

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

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Lysosomal targeting of palmitoyl-protein thioesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Lipid thioesters derived from acylated proteins accumulate in infantile neuronal ceroid lipofuscinosis: correction of the defect in lymphoblasts by recombinant palmitoyl-protein thioesterase

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Myristylation and palmitylation of Src family members: the fats of the matter

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

The ultrastructural characteristics of the abnormal cytosomes in Batten-Kufs' disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

DNA sequencing with chain-terminating inhibitors

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

A human beta-actin expression vector system directs high-level accumulation of antisense transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Cleavage of Structural Proteins during the Assembly of the Head of Bacteriophage T4

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Identification by anti-idiotype antibodies of an intracellular membrane protein that recognizes a mammalian endoplasmic reticulum retention signal

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

Mitochondrial ATP synthase subunit c storage in the ceroid-lipofuscinoses (Batten disease)

21 January 2018

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

7 January 2021

Human palmitoyl protein thioesterase: evidence for lysosomal targeting of the enzyme and disturbed cellular routing in infantile neuronal ceroid lipofuscinosis

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

7 January 2021

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

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

7 January 2021

Suction biopsy of rectal mucosa in the diagnosis of infantile and juvenile types of neuronal ceroid lipofuscinoses

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

7 January 2021

Neuronal ceroid-lipofuscinoses in childhood

1 reference

https://api.crossref.org/works/10.1093%2FHMG%2F7.1.85

7 January 2021