The novel neuronal ceroid lipofuscinosis gene MFSD8 encodes a putative lysosomal transporter (Q24676713)

11

0 references

Xiao-Qing Liu

object named as

Xiao-Qing Liu

7

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Andrew D. Paterson

object named as

Andrew D Paterson

6

0 references

Ulla Lahtinen

object named as

Ulla Lahtinen

9

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author name string

Eija Siintola

1

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Meral Topcu

2

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Nina Aula

3

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Berge A Minassian

5

0 references

Callum Wilson

8

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Anna-Kaisa Anttonen

American Journal of Human Genetics

10

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language of work or name

English

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publication date

July 2007

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published in

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volume

81

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page(s)

136-46

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issue

1

0 references

cites work

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Defective endoplasmic reticulum-resident membrane protein CLN6 affects lysosomal degradation of endocytosed arylsulfatase A

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

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The gene mutated in variant late-infantile neuronal ceroid lipofuscinosis (CLN6) and in nclf mutant mice encodes a novel predicted transmembrane protein

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Disruption of ClC-3, a chloride channel expressed on synaptic vesicles, leads to a loss of the hippocampus

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The neuronal ceroid lipofuscinosis CLN8 membrane protein is a resident of the endoplasmic reticulum

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

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Functional characterization of ORCTL2--an organic cation transporter expressed in the renal proximal tubules

7 April 2017

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

7 April 2017

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7 April 2017

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

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7 April 2017

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The lactate-proton symport of Saccharomyces cerevisiae is encoded by JEN1.

7 April 2017

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GIT1, a gene encoding a novel transporter for glycerophosphoinositol in Saccharomyces cerevisiae

7 April 2017

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Lysosomal targeting of palmitoyl-protein thioesterase

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7 April 2017

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Listening to silence and understanding nonsense: exonic mutations that affect splicing

7 April 2017

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A perfect message: RNA surveillance and nonsense-mediated decay

7 April 2017

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7 April 2017

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Lysosomal storage disease upon disruption of the neuronal chloride transport protein ClC-6.

7 April 2017

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28 September 2017

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Cathepsin D deficiency is associated with a human neurodegenerative disorder

28 September 2017

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Murine cathepsin F deficiency causes neuronal lipofuscinosis and late-onset neurological disease

28 September 2017

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Two novel CLN6 mutations in variant late-infantile neuronal ceroid lipofuscinosis patients of Turkish origin

28 September 2017

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28 September 2017

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28 September 2017

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Impaired cell adhesion and apoptosis in a novel CLN9 Batten disease variant.

28 September 2017

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Variant late infantile neuronal ceroid lipofuscinosis in a subset of Turkish patients is allelic to Northern epilepsy

28 September 2017

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28 September 2017

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

28 September 2017

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Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.

28 September 2017

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The role of vesicular transport proteins in synaptic transmission and neural degeneration

28 September 2017

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Neuronal ceroid-lipofuscinoses in childhood

28 September 2017

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Kufs' disease: a critical reappraisal

28 September 2017

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Loss of the chloride channel ClC-7 leads to lysosomal storage disease and neurodegeneration

28 September 2017

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Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

28 September 2017

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Functional expression of the lactate permease Jen1p of Saccharomyces cerevisiae in Pichia pastoris.

30 May 2018

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Novel mutations in CLN8 in Italian variant late infantile neuronal ceroid lipofuscinosis: Another genetic hit in the Mediterranean.

30 May 2018

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Evaluation of 36 patients from Turkey with neuronal ceroid lipofuscinosis: clinical, neurophysiological, neuroradiological and histopathologic studies.

28 November 2018

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The isolation and properties of a proteolytic enzyme, cathepsin D, from bovine spleen

28 November 2018

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CLC-3 deficiency leads to phenotypes similar to human neuronal ceroid lipofuscinosis.

28 November 2018

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28 November 2018

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Isolation of a novel gene underlying batten disease, CLN3

28 November 2018

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Crossref

https://api.crossref.org/works/10.1086%2F518902