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https://www.readbyqxmd.com/read/28449103/novel-degenerative-and-developmental-defects-in-a-zebrafish-model-of-mucolipidosis-type-iv
#1
Huiqing Li, Wuhong Pei, Sivia Vergarajauregui, Patricia M Zerfas, Nina Raben, Shawn M Burgess, Rosa Puertollano
Mucolipidosis type IV (MLIV) is a lysosomal storage disease characterized by neurologic and ophthalmologic abnormalities. There is currently no effective treatment. MLIV is caused by mutations in MCOLN1, a lysosomal cation channel from the transient receptor potential (TRP) family. In this study we used genome editing to knockout the two mcoln1 genes present in Dario rerio (zebrafish). Our model successfully reproduced the retinal and neuromuscular defects observed in MLIV patients, indicating that this model is suitable for studying the disease pathogenesis...
April 25, 2017: Human Molecular Genetics
https://www.readbyqxmd.com/read/28396763/neonatal-mucolipidosis-type-ii-alpha-beta-due-to-compound-heterozygosity-for-a-known-and-novel-gnptab-mutation-and-a-concomitant-heterozygous-change-in-serpinf1-inherited-from-the-mother
#2
Kirsten A Wood, Regina M Zambrano, Bradley J Cheek, Christopher Arcement, Marie Haymon, Jessica Steinkampf, Srirangan Sampath, James C Hyland, Yves Lacassie
We report on a newborn with IUGR, rhizomelic dwarfism, and suspected chondrodysplasia punctata. At birth, OI was suspected; however, a skeletal survey suggested ML II alpha/beta. Sequencing revealed compound heterozygosity for a reported pathogenic and novel but expected pathogenic GNPTAB variant. Molecular testing for autosomal recessive OI identified a SERPINF1 variant.
April 2017: Clinical Case Reports
https://www.readbyqxmd.com/read/28392473/elucidating-the-behavioral-phenotype-of-patients-affected-with-mucolipidosis-iv-what-can-we-learn-from-the-parents
#3
Perri Segal, Ben Pode-Shakked, Annick Raas-Rothschild
BACKGROUND: Mucolipidosis type IV (ML-IV) is a rare autosomal recessive lysosomal storage disorder which presents with nonspecific developmental delay. Nowadays with the use of new tools such as next generation sequencing, more ML-IV affected patients are diagnosed. Still, identifying the behavioral phenotype might be of help for early diagnosis and anticipatory guidance, as well as for counseling of the families. OBJECTIVE: Identification of the behavioral characteristics of 12 ML-IV patients, aged from 2...
April 6, 2017: European Journal of Medical Genetics
https://www.readbyqxmd.com/read/28112729/structural-basis-of-dual-ca-2-ph-regulation-of-the-endolysosomal-trpml1-channel
#4
Minghui Li, Wei K Zhang, Nicole M Benvin, Xiaoyuan Zhou, Deyuan Su, Huan Li, Shu Wang, Ioannis E Michailidis, Liang Tong, Xueming Li, Jian Yang
The activities of organellar ion channels are often regulated by Ca(2+) and H(+), which are present in high concentrations in many organelles. Here we report a structural element critical for dual Ca(2+)/pH regulation of TRPML1, a Ca(2+)-release channel crucial for endolysosomal function. TRPML1 mutations cause mucolipidosis type IV (MLIV), a severe lysosomal storage disorder characterized by neurodegeneration, mental retardation and blindness. We obtained crystal structures of the 213-residue luminal domain of human TRPML1 containing three missense MLIV-causing mutations...
March 2017: Nature Structural & Molecular Biology
https://www.readbyqxmd.com/read/28095893/clinical-biochemical-and-molecular-characterization-of-korean-patients-with-mucolipidosis-ii-iii-and-successful-prenatal-diagnosis
#5
Mina Yang, Sung Yun Cho, Hyung-Doo Park, Rihwa Choi, Young-Eun Kim, Jinsup Kim, Soo-Youn Lee, Chang-Seok Ki, Jong-Won Kim, Young Bae Sohn, Junghan Song, Dong-Kyu Jin
BACKGROUND: Mucolipidosis types II and III (ML II/III) are autosomal recessive disorders caused by a deficiency in the lysosomal enzyme N-acetylglucosamine-1-phosphotransferase. We investigated the molecular genetic characteristics of the GNPTAB gene, which codes for the alpha/beta subunits of a phosphotransferase, in Korean ML II/III patients. We included prenatal tests and evaluated the spectrum of mutations in East Asian populations with ML II/III through a literature review. METHODS: Seven patients from six families were enrolled in the study including two prenatal tests using chorionic villi samples...
January 17, 2017: Orphanet Journal of Rare Diseases
https://www.readbyqxmd.com/read/28062798/quantitative-proteome-analysis-of-mouse-liver-lysosomes-provides-evidence-for-mannose-6-phosphate-independent-targeting-mechanisms-of-acid-hydrolases-in-mucolipidosis-ii
#6
Sandra Markmann, Svenja Krambeck, Christopher J Hughes, Mina Mirzaian, Johannes M F G Aerts, Paul Saftig, Michaela Schweizer, Johannes P C Vissers, Thomas Braulke, Markus Damme
The efficient receptor-mediated targeting of soluble lysosomal proteins to lysosomes requires the modification with mannose 6-phosphate (M6P) residues. Although the absence of M6P results in misrouting and hypersecretion of lysosomal enzymes in many cells, normal levels of lysosomal enzymes have been reported in liver of patients lacking the M6P-generating phosphotransferase (PT). The identity of lysosomal proteins depending on M6P has not yet been comprehensively analyzed. In this study we purified lysosomes from liver of PT-defective mice and 67 known soluble lysosomal proteins were identified that illustrated quantitative changes using an ion mobility-assisted data-independent label-free LC-MS approach...
March 2017: Molecular & Cellular Proteomics: MCP
https://www.readbyqxmd.com/read/28044261/cognitive-development-in-a-young-child-with-mucolipidosis-type-iv-a-case-report
#7
Evelyn L Fisher, Rose A Sevcik, MaryAnn Romski
Mucolipidosis Type IV (ML IV) is an autosomal recessive genetic disorder characterized by severe psychomotor impairments and ophthalmologic abnormalities. Reports on the cognitive development of people with ML IV are limited, but suggest that achievement of language and cognitive milestones varies between a 3- and 18-month level. There is also variability in reports of whether people with ML IV make developmental progress, regress, or remain static after infancy. This study examines the longitudinal development of a young child with ML IV who participated in an augmentative and alternative communication (AAC) intervention...
January 3, 2017: JIMD Reports
https://www.readbyqxmd.com/read/27928775/lysosomal-storage-disorders-in-nonimmune-hydrops-fetalis-nihf-an-indian-experience
#8
Jayesh Sheth, Mehul Mistri, Krati Shah, Mayank Chaudhary, Koumudi Godbole, Frenny Sheth
Lysosomal storage disorders (LSD) are rare inherited neurovisceral inborn errors of metabolism which may present as nonimmune hydrops fetalis (NIHF) during pregnancy. Although causes of NIHF are highly diverse, LSDs are one of the underlying causes of NIHF. The aim of this study was to elucidate most frequent causes of LSDs presenting as NIHF in Indian population. Several fetal tissues were investigated for enzymatic diagnosis of LSDs using modified fluorometric assays in the current prospective study carried out at our national tertiary center from 2006 through 2016...
December 8, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27797444/hereditary-fructose-intolerance-mimicking-a-biochemical-phenotype-of-mucolipidosis-a-review-of-the-literature-of-secondary-causes-of-lysosomal-enzyme-activity-elevation-in-serum
#9
Carlos R Ferreira, Joseph M Devaney, Sean E Hofherr, Laura M Pollard, Kristina Cusmano-Ozog
We describe a patient with failure to thrive, hepatomegaly, liver dysfunction, and elevation of multiple plasma lysosomal enzyme activities mimicking mucolipidosis II or III, in whom a diagnosis of hereditary fructose intolerance (HFI) was ultimately obtained. She presented before introduction of solid foods, given her consumption of a fructose-containing infant formula. We present the most extensive panel of lysosomal enzyme activities reported to date in a patient with HFI, and propose that multiple enzyme elevations in plasma, especially when in conjunction with a normal plasma α-mannosidase activity, should elicit a differential diagnosis of HFI...
February 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/27785713/i-cell-disease-mucolipidosis-ii-alpha-beta-from-screening-to-molecular-diagnosis
#10
Ankur Singh, Rajniti Prasad, Aditya Kumar Gupta, Anil Sharma, Sandra Alves, Maria Francisca Coutinho, Seema Kapoor, Om Prakash Mishra
Mucopolysaccharidosis (MPS) and Mucolipidosis (ML) share common phenotypes (coarse facial features, organomegaly, dysostosis multiplex) despite having different molecular basis. Thus, they pose great diagnostic challenge to treating clinicians. Differentiating between the two conditions requires a battery of tests from screening to molecular diagnosis. Besides discussing differential diagnosis of MPS like features with negative urinary Glycosaminoglycans (GAG), the authors also discuss the utility of p-nitrocatechol sulphate based chemical test as an important screening tool, besides establishing molecular basis in index case...
February 2017: Indian Journal of Pediatrics
https://www.readbyqxmd.com/read/27710913/solving-a-case-of-allelic-dropout-in-the-gnptab-gene-implications-in-the-molecular-diagnosis-of-mucolipidosis-type-iii-alpha-beta
#11
Maria Francisca Coutinho, Marisa Encarnação, Francisco Laranjeira, Lúcia Lacerda, Maria João Prata, Sandra Alves
While being well known that the diagnosis of many genetic disorders relies on a combination of clinical suspicion and confirmatory genetic testing, not rarely, however, genetic testing needs much perseverance and cunning strategies to identify the causative mutation(s). Here we present a case of a thorny molecular diagnosis of mucolipidosis type III alpha/beta, which is an autosomal recessive lysosomal storage disorder, caused by a defect in the GNPTAB gene that codes for the α/β-subunits of the GlcNAc-1-phosphotransferase...
October 1, 2016: Journal of Pediatric Endocrinology & Metabolism: JPEM
https://www.readbyqxmd.com/read/27707435/progression-of-polysomnographic-abnormalities-in-mucolipidosis-ii-i-cell-disease
#12
William I Wooten, Marianne S Muhlebach, Joseph Muenzer, Ceila E Loughlin, Bradley V Vaughn
Mucolipidosis II (Inclusion cell or I-cell disease) is an autosomal recessive lysosomal storage disorder clinically comparable to the mucopolysaccharidoses (MPS), characterized by progressive respiratory and neurologic deterioration. Sleep problems, especially obstructive sleep apnea (OSA) and disrupted sleep architecture, are observed in other lysosomal storage diseases but have not been described in mucolipidosis II. We report the progression of polysomnographic abnormalities in a child with mucolipidosis II, demonstrated by worsening sleep-related hypoventilation, OSA, and sleep state fragmentation despite advancing PAP therapy...
December 15, 2016: Journal of Clinical Sleep Medicine: JCSM: Official Publication of the American Academy of Sleep Medicine
https://www.readbyqxmd.com/read/27670435/bk-channel-agonist-represents-a-potential-therapeutic-approach-for-lysosomal-storage-diseases
#13
Xi Zoë Zhong, Xue Sun, Qi Cao, Gaofeng Dong, Raphael Schiffmann, Xian-Ping Dong
Efficient lysosomal Ca(2+) release plays an essential role in lysosomal trafficking. We have recently shown that lysosomal big conductance Ca(2+)-activated potassium (BK) channel forms a physical and functional coupling with the lysosomal Ca(2+) release channel Transient Receptor Potential Mucolipin-1 (TRPML1). BK and TRPML1 forms a positive feedback loop to facilitate lysosomal Ca(2+) release and subsequent lysosome membrane trafficking. However, it is unclear whether the positive feedback mechanism is common for other lysosomal storage diseases (LSDs) and whether BK channel agonists rescue abnormal lysosomal storage in LSDs...
September 27, 2016: Scientific Reports
https://www.readbyqxmd.com/read/27662472/mutation-analysis-of-16-mucolipidosis-ii-and-iii-alpha-beta-chinese-children-revealed-genotype-phenotype-correlations
#14
Shuang Liu, Weimin Zhang, Huiping Shi, Fengxia Yao, Min Wei, Zhengqing Qiu
Mucolipidosis II and III alpha/beta are autosomal recessive diseases caused by mutations in the GNPTAB gene which encodes the α and β subunits of the N-acetylglucosamine-1-phosphotransferase. Clinically, mucolipidosis II (MLII) is characterized by severe developmental delay, coarse facial features, skeletal deformities, and other systemic involvement. In contrast, MLIII alpha/beta is a much milder disorder, the symptoms of which include progressive joint stiffness, short stature, and scoliosis. To study the relationship between the genotypes and phenotypes of the MLII and MLIII alpha/beta patients, we analyzed the GNPTAB gene in 16 Chinese MLII and MLIII alpha/beta patients...
2016: PloS One
https://www.readbyqxmd.com/read/27589205/lysosomal-ca-2-signaling-is-essential-for-osteoclastogenesis-and-bone-remodeling
#15
Munkhsoyol Erkhembaatar, Dong Ryun Gu, Seoung Hoon Lee, Yu-Mi Yang, Soonhong Park, Shmuel Muallem, Dong Min Shin, Min Seuk Kim
Lysosomal Ca(2+) emerges as a critical component of receptor-evoked Ca(2+) signaling and plays a crucial role in many lysosomal and physiological functions. Lysosomal Ca(2+) release is mediated by the transient receptor potential (TRP) family member TRPML1, mutations that cause the lysosomal storage disease mucolipidosis type 4. Lysosomes play a key role in osteoclast function. However, nothing is known about the role of lysosomal Ca(2+) signaling in osteoclastogenesis and bone metabolism. In this study, we addressed this knowledge gap by studying the role of lysosomal Ca(2+) signaling in osteoclastogenesis, osteoclast and osteoblast functions, and bone homeostasis in vivo...
September 2, 2016: Journal of Bone and Mineral Research: the Official Journal of the American Society for Bone and Mineral Research
https://www.readbyqxmd.com/read/27525427/early-characteristic-radiographic-changes-in-mucolipidosis-ii
#16
Lillian M Lai, Ralph S Lachman
BACKGROUND: Although mucolipidosis type II has similar metabolic abnormalities to those found in all the mucopolysaccharidoses and mucolipidoses, there are distinctive diagnostic radiographic changes of mucolipidosis II in the perinatal/newborn/infant period. OBJECTIVE: To describe the early characteristic radiographic changes of mucolipidosis II and to document when these changes manifest and resolve. MATERIALS AND METHODS: We retrospectively reviewed radiographs and clinical records of 19 cases of mucolipidosis II from the International Skeletal Dysplasia Registry (1971-present; fetal age to 2½ years)...
November 2016: Pediatric Radiology
https://www.readbyqxmd.com/read/27469132/measurement-of-elevated-concentrations-of-urine-keratan-sulfate-by-uplc-msms-in-lysosomal-storage-disorders-lsds-comparison-of-urine-keratan-sulfate-levels-in-mps-iva-versus-other-lsds
#17
Katarzyna A Ellsworth, Laura M Pollard, Sara Cathey, Tim Wood
Keratan sulfate (KS) is commonly elevated in urine samples from patients with mucopolysaccharidosis type IVA (MPS IVA) and is considered pathognomonic for the condition. Recently, a new method has been described by Martell et al. to detect and measure urinary KS utilizing LC-MS/MS. As a part of the validation of this method in our laboratory, we studied the sensitivity and specificity of elevated urine KS levels using 25 samples from 15 MPS IVA patients, and 138 samples from 102 patients with other lysosomal storage disorders, including MPS I (n = 9), MPS II (n = 13), MPS III (n = 23), MPS VI (n = 7), beta-galactosidase deficiency (n = 7), mucolipidosis (ML) type II, II/III and III (n = 51), alpha-mannosidosis (n = 11), fucosidosis (n = 4), sialidosis (n = 5), Pompe disease (n = 3), aspartylglucosaminuria (n = 4), and galactosialidosis (n = 1)...
July 28, 2016: JIMD Reports
https://www.readbyqxmd.com/read/27349080/-autophagy-in-vici-syndrome-mucolipidosis-type-iv-and-intractable-epilepsy
#18
REVIEW
Masaharu Hayashi
No abstract text is available yet for this article.
May 2016: No to Hattatsu. Brain and Development
https://www.readbyqxmd.com/read/27270598/suppression-of-the-motor-deficit-in-a-mucolipidosis-type-iv-mouse-model-by-bone-marrow-transplantation
#19
Marquis T Walker, Craig Montell
Mucolipidosis IV (MLIV) is a severe lysosomal storage disorder, which results from loss of the TRPML1 channel. MLIV causes multiple impairments in young children, including severe motor deficits. Currently, there is no effective treatment. Using a Drosophila MLIV model, we showed previously that introduction of trpml(+) in phagocytic glia rescued the locomotor deficit by removing early dying neurons, thereby preventing amplification of neuronal death from cytotoxicity. Because microglia, which are phagocytic cells in the mammalian brain, are bone marrow derived, and cross the blood-brain barrier, we used a mouse MLIV model to test the efficacy of bone marrow transplantation (BMT)...
July 1, 2016: Human Molecular Genetics
https://www.readbyqxmd.com/read/27248469/overexpression-of-transient-receptor-potential-mucolipin-2-ion-channels-in-gliomas-role-in-tumor-growth-and-progression
#20
Maria Beatrice Morelli, Massimo Nabissi, Consuelo Amantini, Daniele Tomassoni, Francesco Rossi, Claudio Cardinali, Matteo Santoni, Antonietta Arcella, Maria Antonietta Oliva, Angela Santoni, Carlo Polidori, Maria Paola Mariani, Giorgio Santoni
The Transient Receptor Potential (TRP) superfamily consists of cation-selective and non-selective ion channels playing an important role both in sensory physiology and in physiopathology in several complex diseases including cancers. Among TRP family, the mucolipin (TRPML1, -2, and -3) channels represent a distinct subfamily of endosome/lysosome Ca2+ channel proteins. Loss-of-function mutations in human TRPML-1 gene cause a neurodegenerative disease, Mucolipidosis Type IV, whereas at present no pathology has been associated to human TRPML-2 channels...
July 12, 2016: Oncotarget
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