Traffic jam: a compendium of human diseases that affect intracellular transport processes (Q34156525)

31 July 2017

1 reference

title

Traffic jam: a compendium of human diseases that affect intracellular transport processes (English)

1 reference

31 July 2017

Aridor M

1

1 reference

PubMed ID

11208074

31 July 2017

Hannan LA

series ordinal

2

1 reference

31 July 2017

1 November 2000

1 reference

31 July 2017

1 reference

31 July 2017

1

1 reference

31 July 2017

836-851

1 reference

31 July 2017

11

1 reference

Mechanisms underlying regulated CFTR trafficking

31 July 2017

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Transferrin receptor is negatively modulated by the hemochromatosis protein HFE: implications for cellular iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The hereditary hemochromatosis protein, HFE, specifically regulates transferrin-mediated iron uptake in HeLa cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Haemochromatosis in the new millennium.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Co-trafficking of HFE, a nonclassical major histocompatibility complex class I protein, with the transferrin receptor implies a role in intracellular iron regulation.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The hereditary hemochromatosis gene (HFE): a MHC class I-like gene that functions in the regulation of iron homeostasis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Endoplasmic reticulum retention is a common defect associated with tyrosinase-negative albinism

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Cellular basis for protein C deficiency caused by a single amino acid substitution at Arg15 in the gamma-carboxyglutamic acid domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Crucial residues in the carboxy-terminal end of C1 inhibitor revealed by pathogenic mutants impaired in secretion or function

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Aggregation of the inactive form of human alpha-galactosidase in the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Galactose stabilizes various missense mutants of alpha-galactosidase in Fabry disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Novel Tay-Sachs disease mutations from China

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Sucrase-isomaltase deficiency in humans. Different mutations disrupt intracellular transport, processing, and function of an intestinal brush border enzyme

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Congenital sucrase-isomaltase deficiency. Identification of a glutamine to proline substitution that leads to a transport block of sucrase-isomaltase in a pre-Golgi compartment

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A mutation which disrupts the hydrophobic core of the signal peptide of bilirubin UDP-glucuronosyltransferase, an endoplasmic reticulum membrane protein, causes Crigler-Najjar type II.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Human UDP-glucuronosyltransferases: metabolism, expression, and disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Four contiguous amino acid substitutions, identified in patients with Laron syndrome, differently affect the binding affinity and intracellular trafficking of the growth hormone receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A novel form of hereditary myeloperoxidase deficiency linked to endoplasmic reticulum/proteasome degradation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Mutation of the signal peptide-encoding region of the preproparathyroid hormone gene in familial isolated hypoparathyroidism

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

HERG channel dysfunction in human long QT syndrome. Intracellular transport and functional defects

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Novel mechanism associated with an inherited cardiac arrhythmia: defective protein trafficking by the mutant HERG (G601S) potassium channel.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Impaired intracellular transport contributes to partial thyroxine-binding globulin deficiency in a Japanese family

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A truncated thyroxine-binding globulin due to a frameshift mutation is retained within the rough endoplasmic reticulum: a possible mechanism of complete thyroxine-binding globulin deficiency in Japanese

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A common W556S mutation in the LDL receptor gene of Danish patients with familial hypercholesterolemia encodes a transport-defective protein.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A missense mutation in the low density lipoprotein receptor gene causes familial hypercholesterolemia in Sephardic Jews

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Immunocytochemical localization of mutant low density lipoprotein receptors that fail to reach the Golgi complex

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The LDL receptor locus in familial hypercholesterolemia: Multiple mutations disrupt transport and processing of a membrane receptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The mutant Asn291-->Ser human lipoprotein lipase is associated with reduced catalytic activity and does not influence binding to heparin

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A 30-amino acid truncation of the microsomal triglyceride transfer protein large subunit disrupts its interaction with protein disulfide-isomerase and causes abetalipoproteinemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Cloning and gene defects in microsomal triglyceride transfer protein associated with abetalipoproteinaemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Abetalipoproteinemia is caused by defects of the gene encoding the 97 kDa subunit of a microsomal triglyceride transfer protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The abetalipoproteinemia gene is a member of the vitellogenin family and encodes an alpha-helical domain

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Congenital hypothyroid goiter with deficient thyroglobulin. Identification of an endoplasmic reticulum storage disease with induction of molecular chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Endocrinopathies in the family of endoplasmic reticulum (ER) storage diseases: disorders of protein trafficking and the role of ER molecular chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Proteasomal degradation of unassembled mutant type I collagen pro-alpha1(I) chains

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Fibrinogen brescia: hepatic endoplasmic reticulum storage and hypofibrinogenemia because of a gamma284 Gly-->Arg mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Peroxisome proliferation associated with fibrinogen storage in the liver.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The defective secretion of a naturally occurring alpha-1-antichymotrypsin variant with a frameshift mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Misfolding of mutant aquaporin-2 water channels in nephrogenic diabetes insipidus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Defective aquaporin-2 trafficking in nephrogenic diabetes insipidus and correction by chemical chaperones

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Clinical and molecular evidence of abnormal processing and trafficking of the vasopressin preprohormone in a large kindred with familial neurohypophyseal diabetes insipidus due to a signal peptide mutation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Mechanism of endoplasmic reticulum retention of mutant vasopressin precursor caused by a signal peptide truncation associated with diabetes insipidus.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Mutant vasopressin precursors that cause autosomal dominant neurohypophyseal diabetes insipidus retain dimerization and impair the secretion of wild-type proteins.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Molecular basis of autosomal dominant neurohypophyseal diabetes insipidus. Cellular toxicity caused by the accumulation of mutant vasopressin precursors within the endoplasmic reticulum

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Disrupted proteolipid protein trafficking results in oligodendrocyte apoptosis in an animal model of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Pelizaeus-Merzbacher-like disease: exclusion of the proteolipid protein locus and documentation of a new locus on Xq.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A cellular mechanism governing the severity of Pelizaeus-Merzbacher disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Presenilin mutants subvert chaperone function.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Presenilin-1 mutations downregulate the signalling pathway of the unfolded-protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A role for presenilin-1 in nuclear accumulation of Ire1 fragments and induction of the mammalian unfolded protein response

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Mutations in the ER-Golgi intermediate compartment protein ERGIC-53 cause combined deficiency of coagulation factors V and VIII

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

cDNA cloning of component A of Rab geranylgeranyl transferase and demonstration of its role as a Rab escort protein

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Cloning, mapping and characterization of the human RAB27A gene.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Mannose 6-phosphate-independent targeting of lysosomal enzymes in I-cell disease B lymphoblasts

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

ATM binds to beta-adaptin in cytoplasmic vesicles

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The t(10;11)(p13;q14) in the U937 cell line results in the fusion of the AF10 gene and CALM, encoding a new member of the AP-3 clathrin assembly protein family

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Consistent detection of CALM-AF10 chimaeric transcripts in haematological malignancies with t(10;11)(p13;q14) and identification of novel transcripts

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Clathrin assembly lymphoid myeloid leukemia (CALM) protein: localization in endocytic-coated pits, interactions with clathrin, and the impact of overexpression on clathrin-mediated traffic

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

eps15, a novel tyrosine kinase substrate, exhibits transforming activity

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

EEN encodes for a member of a new family of proteins containing an Src homology 3 domain and is the third gene located on chromosome 19p13 that fuses to MLL in human leukemia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Compromised cytoarchitecture and polarized trafficking in autosomal dominant polycystic kidney disease cells

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

ADPKD: a human disease altering Golgi function and basolateral exocytosis in renal epithelia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The tuberous sclerosis 2 gene product, tuberin, functions as a Rab5 GTPase activating protein (GAP) in modulating endocytosis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Lowe syndrome, a deficiency of phosphatidylinositol 4,5-bisphosphate 5-phosphatase in the Golgi apparatus

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Clinico-pathological study of Cushing's disease with large pituitary adenoma.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

RFX-B is the gene responsible for the most common cause of the bare lymphocyte syndrome, an MHC class II immunodeficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Complementation cloning of an MHC class II transactivator mutated in hereditary MHC class II deficiency (or bare lymphocyte syndrome)

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

HLA class I deficiencies due to mutations in subunit 1 of the peptide transporter TAP1.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Homozygous human TAP peptide transporter mutation in HLA class I deficiency

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Niemann-Pick type C mutations cause lipid traffic jam.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Transport of lipids from golgi to plasma membrane is defective in tangier disease patients and Abc1-deficient mice.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Lipid traffic: the ABC of transbilayer movement

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Membrane traffic in sphingolipid storage diseases

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Molecular characterization of the protein encoded by the Hermansky-Pudlak syndrome type 1 gene

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Altered trafficking of lysosomal proteins in Hermansky-Pudlak syndrome due to mutations in the beta 3A subunit of the AP-3 adaptor

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Identification of the homologous beige and Chediak-Higashi syndrome genes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Analysis of the lysosomal storage disease Chediak-Higashi syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Mutations in RAB27A cause Griscelli syndrome associated with haemophagocytic syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

21 January 2018

How peroxisomes arise.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

An enzyme trafficking defect in two patients with primary hyperoxaluria type 1: peroxisomal alanine/glyoxylate aminotransferase rerouted to mitochondria

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

The protein import machinery of the mitochondrial membranes

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Cytoplasmic localization and the choice of ligand determine aggregate formation by androgen receptor with amplified polyglutamine stretch

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Stirring up development with the heterotrimeric kinesin KIF3.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Loss-of-function mutations in a human gene related to Chlamydomonas reinhardtii dynein IC78 result in primary ciliary dyskinesia.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Isolation of a Miller-Dieker lissencephaly gene containing G protein beta-subunit-like repeats

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Doublecortin, a stabilizer of microtubules

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Kinesin and cytoplasmic dynein in spinal spheroids with motor neuron disease.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Unconventional myosins: anchors in the membrane traffic relay

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Isolation of a novel gene mutated in Wiskott-Aldrich syndrome

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Overexpression of tau protein inhibits kinesin-dependent trafficking of vesicles, mitochondria, and endoplasmic reticulum: implications for Alzheimer's disease

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Untangling tau-related dementia

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Functional characterization of the Opitz syndrome gene product (midin): evidence for homodimerization and association with microtubules throughout the cell cycle

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Mutations of the cationic trypsinogen in hereditary pancreatitis

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Role of membrane organization and membrane domains in endocytic lipid trafficking

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Nup180, a novel nuclear pore complex protein localizing to the cytoplasmic ring and associated fibrils

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

A novel Rab6-interacting domain defines a family of Golgi-targeted coiled-coil proteins

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Amphiphysin II (SH3P9; BIN1), a member of the amphiphysin/Rvs family, is concentrated in the cortical cytomatrix of axon initial segments and nodes of ranvier in brain and around T tubules in skeletal muscle

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Hermansky-Pudlak syndrome and related disorders of organelle formation

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Primary LAMP-2 deficiency causes X-linked vacuolar cardiomyopathy and myopathy (Danon disease).

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

Biosynthesis and degradation of CFTR.

21 January 2018

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Inefficient membrane targeting, translocation, and proteolytic processing by signal peptidase of a mutant preproparathyroid hormone protein

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

A 'de novo' point mutation of the low-density lipoprotein receptor gene in an Italian subject with primary hypercholesterolemia.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

The retention of abnormal type I procollagen and correlated expression of HSP 47 in fibroblasts from a patient with lethal osteogenesis imperfecta

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Endoplasmic reticulum-mediated quality control of type I collagen production by cells from osteogenesis imperfecta patients with mutations in the pro alpha 1 (I) chain carboxyl-terminal propeptide which impair subunit assembly

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Hepatic endoplasmic reticulum storage diseases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Endoplasmic storage disease of liver: characterization of intracytoplasmic hyaline inclusions

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Overloaded endoplasmic reticulum-Golgi compartments, a possible pathomechanism of peripheral neuropathies caused by mutations of the peripheral myelin protein PMP22.

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Neurons promote the translocation of peripheral myelin protein 22 into myelin

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Aberrant protein trafficking in Trembler suggests a disease mechanism for hereditary human peripheral neuropathies

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Mutation-dependent alteration in cellular distribution of peripheral myelin protein 22 in nerve biopsies from Charcot-Marie-Tooth type 1A

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Microvillus inclusion disease: a genetic defect affecting apical membrane protein traffic in intestinal epithelium

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Phenotypic and functional characteristics of monocyte-derived dendritic cells from patients with myelodysplastic syndromes

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Abnormal processing of Golgi elements and lysosomes in Tangier disease

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Lysosomal storage diseases

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

Interaction of huntingtin-associated protein with dynactin P150Glued

1 reference

https://api.crossref.org/works/10.1034%2FJ.1600-0854.2000.011104.X

7 January 2021

10.1034/J.1600-0854.2000.011104.X

Identifiers

DOI

1 reference

31 July 2017

1 reference

PubMed ID

11208074