当前位置： SCI文献检索 > HUMAN MOLECULAR GENETICS期刊下所有文献 > Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

Nonsense and temperature-sensitive mutations in PEX13 are the cause of complementation group H of peroxisome biogenesis disorders.

Abstract：

:Peroxisome biogenesis disorders, including Zellweger syndrome (ZS), neonatal adrenoleukodystrophy (NALD) and infantile Refsum disease, are lethal hereditary diseases caused by abnormalities in peroxisomal assembly. To date, 12 genotypes have been identified. We now have evidence that the complete human cDNA encoding Pex13p, an SH3 protein of a docking factor for the peroxisome targeting signal 1 receptor (Pex5p), rescues peroxisomal matrix protein import and its assembly in fibroblasts from PBD patients of complementation group H. In addition, we detected mutations on the human PEX13 cDNA in two patients of group H. A severe phenotype of a ZS patient (H-02) was homozygous for a nonsense mutation, W234ter, which results in the loss of not only the SH3 domain but also the putative transmembrane domain of Pex13p. A more mildly affected NALD patient (H-01), whose fibroblasts showed the temperature-sensitive (TS) phenotype, was homozygous for a missense mutation in the SH3 domain of Pex13p, I326T. This mutant PEX13 cDNA expression in a PEX13-defective CHO mutant showed I326T to be a TS mutation and thus suggested that Pex13p with the I326T mutation in the SH3 domain is stable at 30 degrees C but is somewhat unstable at 37 degrees C.

journal_name

Hum Mol Genet

journal_title

Human molecular genetics

authors

Shimozawa N,Suzuki Y,Zhang Z,Imamura A,Toyama R,Mukai S,Fujiki Y,Tsukamoto T,Osumi T,Orii T,Wanders RJ,Kondo N

doi

10.1093/hmg/8.6.1077

subject

Has Abstract

pub_date

1999-06-01 00:00:00

pages

1077-83

issue

6

eissn

0964-6906

issn

1460-2083

pii

ddc124

journal_volume

8

pub_type

杂志文章

相关文献

HUMAN MOLECULAR GENETICS文献大全
  • Haplotype analysis of MEN 2 mutations.

    abstract：:Multiple endocrine neoplasia type 2 (MEN 2) is a dominantly inherited cancer syndrome which affects thyroid C cells, and with variable frequency, the adrenal medulla, parathyroid and enteric autonomic ganglia. The syndrome is due to germline mutation in the receptor tyrosine kinase gene, RET. We have recently shown an...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/3.10.1771

    authors： Gardner E,Mulligan LM,Eng C,Healey CS,Kwok JB,Ponder MA,Ponder BA

    更新日期：1994-10-01 00:00:00

  • The utrophin A 5'-UTR drives cap-independent translation exclusively in skeletal muscles of transgenic mice and interacts with eEF1A2.

    abstract：:The molecular mechanisms regulating expression of utrophin A are of therapeutic interest since upregulating its expression at the sarcolemma can compensate for the lack of dystrophin in animal models of Duchenne Muscular Dystrophy (DMD). The 5'-UTR of utrophin A has been previously shown to drive cap-independent inter...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp591

    authors： Miura P,Coriati A,Bélanger G,De Repentigny Y,Lee J,Kothary R,Holcik M,Jasmin BJ

    更新日期：2010-04-01 00:00:00

  • ICI 182,780 induces P-cadherin overexpression in breast cancer cells through chromatin remodelling at the promoter level: a role for C/EBPbeta in CDH3 gene activation.

    abstract：:CDH3/P-cadherin is a classical cadherin. Overexpression of which has been associated with proliferative lesions of high histological grade, decreased cell polarity and poor survival of patients with breast cancer. In vitro studies showed that it can be up-regulated by ICI 182,780, suggesting that the lack of ERalpha s...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq134

    authors： Albergaria A,Ribeiro AS,Pinho S,Milanezi F,Carneiro V,Sousa B,Sousa S,Oliveira C,Machado JC,Seruca R,Paredes J,Schmitt F

    更新日期：2010-07-01 00:00:00

  • Connexin26 mutations associated with the most common form of non-syndromic neurosensory autosomal recessive deafness (DFNB1) in Mediterraneans.

    abstract：:Non-syndromic neurosensory autosomal recessive deafness (NSRD) is the most common form of genetic hearing loss. Previous studies defined at least 15 human NSRD loci. Recently we demonstrated that DFNB1, located on the long arm of chromosome 13, accounts for approximately 80% of cases in the Mediterranean area. Further...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/6.9.1605

    authors： Zelante L,Gasparini P,Estivill X,Melchionda S,D'Agruma L,Govea N,Milá M,Monica MD,Lutfi J,Shohat M,Mansfield E,Delgrosso K,Rappaport E,Surrey S,Fortina P

    更新日期：1997-09-01 00:00:00

  • Drosophila FMRP participates in the DNA damage response by regulating G2/M cell cycle checkpoint and apoptosis.

    abstract：:Fragile X syndrome, the most common form of inherited mental retardation, is caused by the loss of the fragile X mental retardation protein (FMRP). FMRP is a ubiquitously expressed, multi-domain RNA-binding protein, but its in vivo function remains poorly understood. Recent studies have shown that FMRP participates in...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds307

    authors： Liu W,Jiang F,Bi X,Zhang YQ

    更新日期：2012-11-01 00:00:00

  • Mitochondrial respiration without ubiquinone biosynthesis.

    abstract：:Ubiquinone (UQ), a.k.a. coenzyme Q, is a redox-active lipid that participates in several cellular processes, in particular mitochondrial electron transport. Primary UQ deficiency is a rare but severely debilitating condition. Mclk1 (a.k.a. Coq7) encodes a conserved mitochondrial enzyme that is necessary for UQ biosynt...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddt330

    authors： Wang Y,Hekimi S

    更新日期：2013-12-01 00:00:00

  • Scrutinizing ciliopathies by unraveling ciliary interaction networks.

    abstract：:Research of cilia has gained significant momentum in the last 15 years, as an increasing number of human genetic diseases were found to be caused by disruption of a protein that localizes to cilia. These ciliopathies are as diverse as the functions of the associated proteins, covering a spectrum of overlapping phenoty...

    journal_title：Human molecular genetics

    pub_type： 杂志文章,评审

    doi：10.1093/hmg/ddr354

    authors： van Reeuwijk J,Arts HH,Roepman R

    更新日期：2011-10-15 00:00:00

  • Expression and imprinting of MAGEL2 suggest a role in Prader-willi syndrome and the homologous murine imprinting phenotype.

    abstract：:Prader-Willi syndrome (PWS) is caused by the loss of expression of imprinted genes in chromosome 15q11-q13. Affected individuals exhibit neonatal hypotonia, developmental delay and childhood-onset obesity. Necdin, a protein implicated in the terminal differentiation of neurons, is the only PWS candidate gene to reduce...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.12.1813

    authors： Lee S,Kozlov S,Hernandez L,Chamberlain SJ,Brannan CI,Stewart CL,Wevrick R

    更新日期：2000-07-22 00:00:00

  • Skeletal muscle repair in a mouse model of nemaline myopathy.

    abstract：:Nemaline myopathy (NM), the most common non-dystrophic congenital myopathy, is a variably severe neuromuscular disorder for which no effective treatment is available. Although a number of genes have been identified in which mutations can cause NM, the pathogenetic mechanisms leading to the phenotypes are poorly unders...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl186

    authors： Sanoudou D,Corbett MA,Han M,Ghoddusi M,Nguyen MA,Vlahovich N,Hardeman EC,Beggs AH

    更新日期：2006-09-01 00:00:00

  • Cerebral small-vessel disease protein HTRA1 controls the amount of TGF-β1 via cleavage of proTGF-β1.

    abstract：:Cerebral small-vessel disease is a common disorder in elderly populations; however, its molecular basis is not well understood. We recently demonstrated that mutations in the high-temperature requirement A (HTRA) serine peptidase 1 (HTRA1) gene cause a hereditary cerebral small-vessel disease, cerebral autosomal reces...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr063

    authors： Shiga A,Nozaki H,Yokoseki A,Nihonmatsu M,Kawata H,Kato T,Koyama A,Arima K,Ikeda M,Katada S,Toyoshima Y,Takahashi H,Tanaka A,Nakano I,Ikeuchi T,Nishizawa M,Onodera O

    更新日期：2011-05-01 00:00:00

  • Ataxin-2 repeat-length variation and neurodegeneration.

    abstract：:Expanded glutamine repeats of the ataxin-2 (ATXN2) protein cause spinocerebellar ataxia type 2 (SCA2), a rare neurodegenerative disorder. More recent studies have suggested that expanded ATXN2 repeats are a genetic risk factor for amyotrophic lateral sclerosis (ALS) via an RNA-dependent interaction with TDP-43. Given ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr227

    authors： Ross OA,Rutherford NJ,Baker M,Soto-Ortolaza AI,Carrasquillo MM,DeJesus-Hernandez M,Adamson J,Li M,Volkening K,Finger E,Seeley WW,Hatanpaa KJ,Lomen-Hoerth C,Kertesz A,Bigio EH,Lippa C,Woodruff BK,Knopman DS,White CL 3r

    更新日期：2011-08-15 00:00:00

  • Sex-specific linkage to total serum immunoglobulin E in families of children with asthma in Costa Rica.

    abstract：:Serum total immunoglobulin E (IgE) is a critical intermediate phenotype of allergic diseases. Although total IgE exhibits sexual dimorphism in humans (with males demonstrating higher IgE than females), the molecular basis of this difference is unknown. A genome-wide scan of 380 short-tandem repeat (STR) markers was pe...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddl447

    authors： Raby BA,Soto-Quiros ME,Avila L,Lake SL,Murphy A,Liang C,Fournier E,Spesny M,Sylvia JS,Verner A,Hudson TJ,Klanderman BJ,Freimer NB,Silverman EK,Celedón JC

    更新日期：2007-02-01 00:00:00

  • The spinal muscular atrophy disease protein SMN is linked to the Rho-kinase pathway via profilin.

    abstract：:Spinal muscular atrophy (SMA), a frequent neurodegenerative disease, is caused by reduced levels of functional survival of motoneuron (SMN) protein. SMN is involved in multiple pathways, including RNA metabolism and splicing as well as motoneuron development and function. Here we provide evidence for a major contribut...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddr425

    authors： Nölle A,Zeug A,van Bergeijk J,Tönges L,Gerhard R,Brinkmann H,Al Rayes S,Hensel N,Schill Y,Apkhazava D,Jablonka S,O'mer J,Srivastav RK,Baasner A,Lingor P,Wirth B,Ponimaskin E,Niedenthal R,Grothe C,Claus P

    更新日期：2011-12-15 00:00:00

  • CAG repeat instability at SCA2 locus: anchoring CAA interruptions and linked single nucleotide polymorphisms.

    abstract：:Spinocerebellar ataxia 2 (SCA2) is an autosomal dominant neurodegenerative disorder that results from the expansion of a cryptic CAG repeat within the exon 1 of the SCA2 gene. The CAG repeat in normal individuals varies in length from 14 to 31 repeats and is frequently interrupted by one or more CAA triplets, whereas ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/10.21.2437

    authors： Choudhry S,Mukerji M,Srivastava AK,Jain S,Brahmachari SK

    更新日期：2001-10-01 00:00:00

  • Prevention of polyglutamine oligomerization and neurodegeneration by the peptide inhibitor QBP1 in Drosophila.

    abstract：:Polyglutamine (polyQ) diseases are a growing class of inherited neurodegenerative diseases including Huntington's disease, which are caused by abnormal expansions of the polyQ stretch in each unrelated disease protein. The expanded polyQ stretch is thought to confer toxic properties on the disease proteins through alt...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddg144

    authors： Nagai Y,Fujikake N,Ohno K,Higashiyama H,Popiel HA,Rahadian J,Yamaguchi M,Strittmatter WJ,Burke JR,Toda T

    更新日期：2003-06-01 00:00:00

  • Prdm1 functions in the mesoderm of the second heart field, where it interacts genetically with Tbx1, during outflow tract morphogenesis in the mouse embryo.

    abstract：:Congenital heart defects affect at least 0.8% of newborn children and are a major cause of lethality prior to birth. Malformations of the arterial pole are particularly frequent. The myocardium at the base of the pulmonary trunk and aorta and the arterial tree associated with these great arteries are derived from spla...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu232

    authors： Vincent SD,Mayeuf-Louchart A,Watanabe Y,Brzezinski JA 4th,Miyagawa-Tomita S,Kelly RG,Buckingham M

    更新日期：2014-10-01 00:00:00

  • Enhanced excitation-coupled Ca(2+) entry induces nuclear translocation of NFAT and contributes to IL-6 release from myotubes from patients with central core disease.

    abstract：:Prolonged depolarization of skeletal muscle cells induces entry of extracellular calcium into muscle cells, an event referred to as excitation-coupled calcium entry. Skeletal muscle excitation-coupled calcium entry relies on the interaction between the 1,4-dihydropyridine receptor on the sarcolemma and the ryanodine r...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq506

    authors： Treves S,Vukcevic M,Jeannet PY,Levano S,Girard T,Urwyler A,Fischer D,Voit T,Jungbluth H,Lillis S,Muntoni F,Quinlivan R,Sarkozy A,Bushby K,Zorzato F

    更新日期：2011-02-01 00:00:00

  • c-Myc is a regulator of the PKD1 gene and PC1-induced pathogenesis.

    abstract：:Autosomal dominant polycystic kidney disease (ADPKD) is among the most common monogenic disorders mainly associated with PKD1/PC1 mutations. We show herein that renal regulation in Pc1 dosage-reduced and -increased mouse models converge toward stimulation of c-Myc expression along with β-catenin, delineating c-Myc as ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddy379

    authors： Parrot C,Kurbegovic A,Yao G,Couillard M,Côté O,Trudel M

    更新日期：2019-03-01 00:00:00

  • Thrombospondin-1 and disease progression in dysferlinopathy.

    abstract：:The purpose of this study was to determine whether thrombospondin (TSP)-1 promotes macrophage activity and disease progression in dysferlinopathy. First, we found that levels of TSP-1 are elevated in blood of non-ambulant dysferlinopathy patients compared with ambulant patients and healthy controls, supporting the ide...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddx378

    authors： Urao N,Mirza RE,Corbiere TF,Hollander Z,Borchers CH,Koh TJ

    更新日期：2017-12-15 00:00:00

  • Mutant SPTLC1 dominantly inhibits serine palmitoyltransferase activity in vivo and confers an age-dependent neuropathy.

    abstract：:Mutations in enzymes involved in sphingolipid metabolism and trafficking cause a variety of neurological disorders, but details of the molecular pathophysiology remain obscure. SPTLC1 encodes one subunit of serine palmitoyltransferase (SPT), the rate-limiting enzyme in sphingolipid synthesis. Mutations in SPTLC1 cause...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi380

    authors： McCampbell A,Truong D,Broom DC,Allchorne A,Gable K,Cutler RG,Mattson MP,Woolf CJ,Frosch MP,Harmon JM,Dunn TM,Brown RH Jr

    更新日期：2005-11-15 00:00:00

  • Identification of mutations in two major mRNA isoforms of the Chediak-Higashi syndrome gene in human and mouse.

    abstract：:Chediak-Higashi syndrome is an autosomal recessive, immune deficiency disorder of human (CHS) and mouse (beige, bg) that is characterized by abnormal intracellular protein transport to, and from, the lysosome. Recent reports have described the identification of homologous genes that are mutated in human CHS and bg mic...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/6.7.1091

    authors： Barbosa MD,Barrat FJ,Tchernev VT,Nguyen QA,Mishra VS,Colman SD,Pastural E,Dufourcq-Lagelouse R,Fischer A,Holcombe RF,Wallace MR,Brandt SJ,de Saint Basile G,Kingsmore SF

    更新日期：1997-07-01 00:00:00

  • Blepharophimosis syndrome is linked to chromosome 3q.

    abstract：:Blepharophimosis syndrome (BPES, blepharophimosis eyelid syndrome) is a distinctive congenital eyelid malformation which can occur sporadically or be inherited in an autosomal dominant fashion. Previous reports have described associated cytogenetic abnormalities on chromosome 3q. We have ascertained and sampled two BP...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/4.3.443

    authors： Small KW,Stalvey M,Fisher L,Mullen L,Dickel C,Beadles K,Reimer R,Lessner A,Lewis K,Pericak-Vance MA

    更新日期：1995-03-01 00:00:00

  • Reproductive and epigenetic outcomes associated with aging mouse oocytes.

    abstract：:Female aging entails a decline in fertility in mammals, manifested by reduced oocyte reserves and poor oocyte quality accompanied by chromosomal anomalies and reduced litter size. In addition to compromised genetic integrity, recent studies suggest that epigenetic mechanisms may be altered in aging oocytes, with age a...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddp127

    authors： Lopes FL,Fortier AL,Darricarrère N,Chan D,Arnold DR,Trasler JM

    更新日期：2009-06-01 00:00:00

  • The preliminary transcript map of a human skeletal muscle.

    abstract：:By sequencing 11,405 individual expressed sequence tags (ESTs) from a cDNA library of a human skeletal muscle, we identified 1945 individual transcripts, 725 of which showed no correspondence with known human genes. We report here the chromosomal localization of 267 of these, obtained by radiation hybrid (RH) mapping....

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/6.9.1445

    authors： Pallavicini A,Zimbello R,Tiso N,Muraro T,Rampoldi L,Bortoluzzi S,Valle G,Lanfranchi G,Danieli GA

    更新日期：1997-09-01 00:00:00

  • Physiological identification of human transcripts translationally regulated by a specific microRNA.

    abstract：:One mechanism by which endogenous microRNAs (miRNAs) function is to suppress translation of target mRNAs. Computational identification of target mRNAs is hampered by the partial complementarity between miRNAs and their targets and the lack of in vivo approaches to identify targets. Here, we identify mRNAs that are reg...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddi397

    authors： Nakamoto M,Jin P,O'Donnell WT,Warren ST

    更新日期：2005-12-15 00:00:00

  • Discovery and genetic localization of Down syndrome cerebellar phenotypes using the Ts65Dn mouse.

    abstract：:Down syndrome (DS) is the most common genetic cause of mental retardation and affects many aspects of brain development. DS individuals exhibit an overall reduction in brain size with a disproportionately greater reduction in cerebellar volume. The Ts65Dn mouse is segmentally trisomic for the distal 12-15 Mb of mouse ...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/9.2.195

    authors： Baxter LL,Moran TH,Richtsmeier JT,Troncoso J,Reeves RH

    更新日期：2000-01-22 00:00:00

  • Over-expression of BCL2 rescues muscle weakness in a mouse model of oculopharyngeal muscular dystrophy.

    abstract：:Oculopharyngeal muscular dystrophy (OPMD) is a late-onset muscular dystrophy caused by a polyalanine expansion mutation in the coding region of the poly-(A) binding protein nuclear 1 (PABPN1) gene. In unaffected individuals, (GCG)(6) encodes the first 6 alanines in a homopolymeric stretch of 10 alanines. In most patie...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddq559

    authors： Davies JE,Rubinsztein DC

    更新日期：2011-03-15 00:00:00

  • Utrophin A is essential in mediating the functional adaptations of mdx mouse muscle following chronic AMPK activation.

    abstract：:Duchenne muscular dystrophy (DMD) is caused by the absence of dystrophin along muscle fibers. An attractive therapeutic avenue for DMD consists in the upregulation of utrophin A, a protein with high sequence identity and functional redundancy with dystrophin. Recent work has shown that pharmacological interventions th...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddu535

    authors： Al-Rewashdy H,Ljubicic V,Lin W,Renaud JM,Jasmin BJ

    更新日期：2015-03-01 00:00:00

  • Non-syndromic retinitis pigmentosa due to mutations in the mucopolysaccharidosis type IIIC gene, heparan-alpha-glucosaminide N-acetyltransferase (HGSNAT).

    abstract：:Retinitis pigmentosa (RP), the most common form of inherited retinal degeneration, is clinically and genetically heterogeneous and can appear as syndromic or non-syndromic. Mucopolysaccharidosis type IIIC (MPS IIIC) is a lethal disorder, caused by mutations in the heparan-alpha-glucosaminide N-acetyltransferase (HGSNA...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/ddv118

    authors： Haer-Wigman L,Newman H,Leibu R,Bax NM,Baris HN,Rizel L,Banin E,Massarweh A,Roosing S,Lefeber DJ,Zonneveld-Vrieling MN,Isakov O,Shomron N,Sharon D,Den Hollander AI,Hoyng CB,Cremers FP,Ben-Yosef T

    更新日期：2015-07-01 00:00:00

  • Mitofusin 2 is necessary for striatal axonal projections of midbrain dopamine neurons.

    abstract：:Mitochondrial dysfunction is implicated in aging and degenerative disorders such as Parkinson's disease (PD). Continuous fission and fusion of mitochondria shapes their morphology and is essential to maintain oxidative phosphorylation. Loss-of-function mutations in PTEN-induced kinase1 (PINK1) or Parkin cause a recess...

    journal_title：Human molecular genetics

    pub_type： 杂志文章

    doi：10.1093/hmg/dds352

    authors： Lee S,Sterky FH,Mourier A,Terzioglu M,Cullheim S,Olson L,Larsson NG

    更新日期：2012-11-15 00:00:00