(Q40626944)

22 September 2017

Traffic jams II: an update of diseases of intracellular transport (English)

1 reference

22 September 2017

Meir Aridor

1

1 reference

PubMed ID

12383344

22 September 2017

Lisa A Hannan

series ordinal

2

1 reference

22 September 2017

1 November 2002

1 reference

22 September 2017

1 reference

22 September 2017

3

1 reference

22 September 2017

781-790

1 reference

22 September 2017

11

1 reference

Novel mechanism for Brugada syndrome: defective surface localization of an SCN5A mutant (R1432G).

22 September 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Expression and intracellular localization of an SCN5A double mutant R1232W/T1620M implicated in Brugada syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Defective nephrin trafficking caused by missense mutations in the NPHS1 gene: insight into the mechanisms of congenital nephrotic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Identification and functional analysis of two novel mutations in the multidrug resistance protein 2 gene in Israeli patients with Dubin-Johnson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Impaired protein maturation of the conjugate export pump multidrug resistance protein 2 as a consequence of a deletion mutation in Dubin-Johnson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Exon-intron organization of the human multidrug-resistance protein 2 (MRP2) gene mutated in Dubin-Johnson syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Disease-causing missense mutations in the PHEX gene interfere with membrane targeting of the recombinant protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Identification of a familial hyperinsulinism-causing mutation in the sulfonylurea receptor 1 that prevents normal trafficking and function of KATP channels

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Trafficking and folding defects in hereditary spherocytosis mutants of the human red cell anion exchanger

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Biochemical analysis of a missense mutation in aceruloplasminemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Neuronal trafficking of palmitoyl protein thioesterase provides an excellent model to study the effects of different mutations which cause infantile neuronal ceroid lipofuscinocis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Molecular pathogenesis of a disease: structural consequences of aspartylglucosaminuria mutations.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Intracellular transport, assembly, and degradation of wild-type and disease-linked mutant gap junction proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Functional heterogeneity of mutant rhodopsins responsible for autosomal dominant retinitis pigmentosa

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

EIF2AK3, encoding translation initiation factor 2-alpha kinase 3, is mutated in patients with Wolcott-Rallison syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Diabetes mellitus and exocrine pancreatic dysfunction in perk-/- mice reveals a role for translational control in secretory cell survival

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Translational control is required for the unfolded protein response and in vivo glucose homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Endoplasmic reticulum stress-inducible protein, Herp, enhances presenilin-mediated generation of amyloid beta-protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

CHIP is associated with Parkin, a gene responsible for familial Parkinson's disease, and enhances its ubiquitin ligase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

An unfolded putative transmembrane polypeptide, which can lead to endoplasmic reticulum stress, is a substrate of Parkin

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Parkin suppresses unfolded protein stress-induced cell death through its E3 ubiquitin-protein ligase activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Ubiquitination of a new form of alpha-synuclein by parkin from human brain: implications for Parkinson's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Neuroendocrine secretory protein 7B2: structure, expression and functions

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Cloning of the gene encoding a novel integral membrane protein, mucolipidin-and identification of the two major founder mutations causing mucolipidosis type IV

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Identification and pharmacological correction of a membrane trafficking defect associated with a mutation in the sulfonylurea receptor causing familial hyperinsulinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Phenotypic behavior of caveolin-3 mutations that cause autosomal dominant limb girdle muscular dystrophy (LGMD-1C). Retention of LGMD-1C caveolin-3 mutants within the golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Limb-girdle muscular dystrophy (LGMD-1C) mutants of caveolin-3 undergo ubiquitination and proteasomal degradation. Treatment with proteasomal inhibitors blocks the dominant negative effect of LGMD-1C mutanta and rescues wild-type caveolin-3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Mucopolysaccharidosis type VI (Maroteaux-Lamy syndrome): a Y210C mutation causes either altered protein handling or altered protein function of N-acetylgalactosamine 4-sulfatase at multiple points in the vacuolar network.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Furin initiates gelsolin familial amyloidosis in the Golgi through a defect in Ca(2+) stabilization

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Apolipoprotein B48 glycosylation in abetalipoproteinemia and Anderson's disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Charcot-Marie-Tooth disease type 2A caused by mutation in a microtubule motor KIF1Bbeta

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

A selective interaction between OS-9 and the carboxyl-terminal tail of meprin beta

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

YOS9, the putative yeast homolog of a gene amplified in osteosarcomas, is involved in the endoplasmic reticulum (ER)-Golgi transport of GPI-anchored proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Rabaptin-5 is a novel fusion partner to platelet-derived growth factor beta receptor in chronic myelomonocytic leukemia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Fgd1, the Cdc42 guanine nucleotide exchange factor responsible for faciogenital dysplasia, is localized to the subcortical actin cytoskeleton and Golgi membrane

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Mutant torsinA, responsible for early-onset torsion dystonia, forms membrane inclusions in cultured neural cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

ASK1 is essential for endoplasmic reticulum stress-induced neuronal cell death triggered by expanded polyglutamine repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Activation of JNK and transcriptional repressor ATF3/LRF1 through the IRE1/TRAF2 pathway is implicated in human vascular endothelial cell death by homocysteine

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Homocysteine induces programmed cell death in human vascular endothelial cells through activation of the unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Mutations in PMM2, a phosphomannomutase gene on chromosome 16p13, in carbohydrate-deficient glycoprotein type I syndrome (Jaeken syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Congenital disorders of glycosylation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Congenital disorders of glycosylation: genetic model systems lead the way.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Carbohydrate-deficient glycoprotein syndrome type Ib. Phosphomannose isomerase deficiency and mannose therapy

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

A novel carbohydrate-deficient glycoprotein syndrome characterized by a deficiency in glucosylation of the dolichol-linked oligosaccharide

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

A mutation in the human ortholog of the Saccharomyces cerevisiae ALG6 gene causes carbohydrate-deficient glycoprotein syndrome type-Ic

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Carbohydrate deficient glycoprotein syndrome type IV: deficiency of dolichyl-P-Man:Man(5)GlcNAc(2)-PP-dolichyl mannosyltransferase

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Dolichol phosphate mannose synthase (DPM1) mutations define congenital disorder of glycosylation Ie (CDG-Ie)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Deficiency of dolichol-phosphate-mannose synthase-1 causes congenital disorder of glycosylation type Ie

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

MPDU1 mutations underlie a novel human congenital disorder of glycosylation, designated type If

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

A novel disorder caused by defective biosynthesis of N-linked oligosaccharides due to glucosidase I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

A genetic defect in the biosynthesis of dermatan sulfate proteoglycan: galactosyltransferase I deficiency in fibroblasts from a patient with a progeroid syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

The putative tumor suppressors EXT1 and EXT2 form a stable complex that accumulates in the Golgi apparatus and catalyzes the synthesis of heparan sulfate

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

Frank-Starling relationship: long on importance, short on mechanism

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

7 January 2021

Disease-causing mutations in cartilage oligomeric matrix protein cause an unstructured Ca2+ binding domain

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

7 January 2021

The fate of cartilage oligomeric matrix protein is determined by the cell type in the case of a novel mutation in pseudoachondroplasia

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

7 January 2021

Increased myocardial Rab GTPase expression: a consequence and cause of cardiomyopathy

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

7 January 2021

A new type of carbohydrate-deficient glycoprotein syndrome due to a decreased import of GDP-fucose into the golgi

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2002.31103.X

7 January 2021

10.1034/J.1600-0854.2002.31103.X

Identifiers

DOI

1 reference

22 September 2017

1 reference

PubMed ID

12383344