Excellent presentation this morning by @PayamMohassel overviewing SPTLC1-related diseases https://t.co/JGEex5A8Tv #WMS2022 @WorldMuscleSoc https://t.co/RjVWUWqzDd
Today I learned there exists childhood ALS/MND and I just want to curl in fetal position and cry. Why's nature so cruel? 😭 https://t.co/19DmZAMLn3
RT @PayamMohassel: I will be joining Johns Hopkins Neurology as associate professor in July 2022 (hiring!). Research focus areas: 1. skelet…
RT @PayamMohassel: I will be joining Johns Hopkins Neurology as associate professor in July 2022 (hiring!). Research focus areas: 1. skelet…
RT @PayamMohassel: I will be joining Johns Hopkins Neurology as associate professor in July 2022 (hiring!). Research focus areas: 1. skelet…
RT @PayamMohassel: I will be joining Johns Hopkins Neurology as associate professor in July 2022 (hiring!). Research focus areas: 1. skelet…
I will be joining Johns Hopkins Neurology as associate professor in July 2022 (hiring!). Research focus areas: 1. skeletal muscle fibrosis in disease states 2. Regulation of sphingolipid biosynthesis and neurodegeneration. #myotwitter #NeuroTwitter https
RT @Tuite002: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis | Nature Medicine SPTLC1 variants that result…
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis | Nature Medicine SPTLC1 variants that result in unrestrained sphingoid base synthesis cause a monogenic form of ALS. https://t.co/axjzwY14eZ
RT @NatureJapan: 遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine https://t.co/kg6X7Ki19x #遺伝学 #ALS
Scientists discover a new genetic form of ALS in children https://t.co/tfvOJDoRBy https://t.co/ELAXAXLWF8 https://t.co/1WzIUtK6pG
More sphingolipids are NOT better for #ALS #Neurodegeneration #ChildhoodALS #MonogenicDisease @NatureMedicine Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis- https://t.co/scKbiCA1O9
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis | Nature Medicine https://t.co/dycSk2OuCs
Artículo original en: https://t.co/Cfz1VEpqb2
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis https://t.co/nUVRUNAjNS
RT @NatMetabolism: #NatMetabPicks | In @NatureMedicine, a group led by Carsten Bönnemann (@NINDSnews) & Teresa Dunn (@USUhealthsci) identif…
#NatMetabPicks | In @NatureMedicine, a group led by Carsten Bönnemann (@NINDSnews) & Teresa Dunn (@USUhealthsci) identify familial mutations in a subunit of serine palmitoyltransferase as causative in childhood-onset ALS, & present siRNA-based trea
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis #neuropath https://t.co/zhwxwXjweb
RT @NeurologiaHUPH: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis https://t.co/pPBzlvES4T
RT @NeurologiaHUPH: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis https://t.co/pPBzlvES4T
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis https://t.co/pPBzlvES4T
RT @AngelPSempere: Los autores identifican una causa metabólica, exceso de la síntesis de esfingolípidos, en la Esclerosis lateral amiotróf…
RT @AngelPSempere: Los autores identifican una causa metabólica, exceso de la síntesis de esfingolípidos, en la Esclerosis lateral amiotróf…
RT @AngelPSempere: Los autores identifican una causa metabólica, exceso de la síntesis de esfingolípidos, en la Esclerosis lateral amiotróf…
Los autores identifican una causa metabólica, exceso de la síntesis de esfingolípidos, en la Esclerosis lateral amiotrófica infantil. @NatureMedicine https://t.co/fnTRQECtCU
RT @96hage: 遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine | Nature Portfolio: https://t.co/FFzQ7rBxoz
遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine | Nature Portfolio: https://t.co/FFzQ7rBxoz
@ALSAction Just a note for those who want into this mechanism, many of the articles written about it say SPLTC1, but it's actually SPTLC1, which can confuse during the PubMed search. Thank you for highlighting it though. For me, this one adds to the comple
https://t.co/rKzsdHOgyp Gen dat Proteine codeert = verantwoordelijk voor ALS ziekte @ALSnederland
遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine | Nature Portfolio https://t.co/1UKzPjKN99
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis https://t.co/qoWHVwWFx1 of note: identification of a autosomal dominant mutation in SPTLC1 gene (sphingolipid synthesis) causing ALS. Great work by Carsten Bönneman's group!
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
RT @Primary_Immune: The accompanying journal article: "Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synth…
The accompanying journal article: "Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis" https://t.co/kVYLKxjNAm https://t.co/Wi2OPkuUd1
RT @cemdede: A Genetic Form of ALS is Discovered https://t.co/HlUreR28Is
A Genetic Form of ALS is Discovered https://t.co/HlUreR28Is
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis https://t.co/44HTgxwCYK
The authors propose a new metabolic mechanism for motor neuron disease due to unrestrained sphingolipid synthesis. https://t.co/FaO05M5dXj Can excess sphingolipid be potentially used as a biomarker for ALS?
RT @naifalmontashir: This is big for ALS! An early childhood-onset form of ALS is caused by dominantly acting variants in a metabolic gene…
RT @Kazuh_ideA: Childhood ALS caused by excess sphingolipid synthesis 幼年性ALS 、過剰なスフィンゴ脂質合成が原因 早期発症、緩やかな進行 (Nature Medicine) https://t.co/…
Childhood ALS caused by excess sphingolipid synthesis 幼年性ALS 、過剰なスフィンゴ脂質合成が原因 早期発症、緩やかな進行 (Nature Medicine) https://t.co/PbDuLLIYx7
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
【論文】子供に発症するALSの原因遺伝子を特定 https://t.co/M4mozBReQF 11人の小児発症ALS患者の遺伝子解析の結果、SPTLC1遺伝子の変異を特定。セリン・パルミトルトランスフェラーゼ (SPT) の恒常性異常により、SPT産物が増加。 In vitroでSPTLC1の変異部分をRNAiで抑制すると、SPTが正常化。
Esclerosis lateral amiotrófica infantil causada por un exceso de síntesis de esfingolípidos. https://t.co/McoJkebAuu
Dr. Bob Brown of UMass is also one of the authors of this study. Praying they find a way to silence this gene & give these kids a chance. https://t.co/HiSjE4uKV0
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis https://t.co/MUoWm9P5SO https://t.co/wFkMZnxa4g
RT @ShorterLab: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis: https://t.co/Pmpuv9FacX
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
RT @naifalmontashir: This is big for ALS! An early childhood-onset form of ALS is caused by dominantly acting variants in a metabolic gene…
RT @ProiaLab: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Mutations disrupt the normal homeostatic reg…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @ShorterLab: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis: https://t.co/Pmpuv9FacX
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis: https://t.co/Pmpuv9FacX
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis. Mutations disrupt the normal homeostatic regulation of serine palmitoyltransferase by ORMDLs. @NatureMedicine https://t.co/ByUEolmBDz https://t.co/g6bvGSMsaR
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
This is big for ALS! An early childhood-onset form of ALS is caused by dominantly acting variants in a metabolic gene (SPTLC1) resulting in excess sphingolipid synthesis. Targeting the mutant allele for degradation by RNA interference normalized sphingo
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
RT @NaturePortfolio: Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metab…
NatureMedicine に掲載された臨床結果によると、早期発症型 ALS の単一の遺伝的原因と、他の病型の神経変性に寄与する可能性のある、代謝に関連した新規の分子経路が明らかになりました。 https://t.co/gafBzbDabO https://t.co/lDtycMhj2A https://t.co/o6KmyaL1t8
Clinical findings reported in @NatureMedicine reveal both a single genetic cause of early-onset ALS and a novel, metabolism-associated, molecular pathway that may contribute to neurodegeneration in other forms of the disease. https://t.co/2NQfGxM1hu https:
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
RT @NatureMedicine: A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a…
Childhood-onset ALS metabolic cause --> implications for adult-onset ALS? #MyoTwitter Internationl effort! "The role of metabolic disturbances in ALS has been elusive... excess sphingolipid biosynthesis as a fundamental metabolic mechanism for MN diseas
A study of patients from seven unrelated families identifies a new monogenic cause for early onset #ALS and proposes a specific metabolic mechanism leading to motor neuron disease via sphingolipid excess @NINDSnews @NIH https://t.co/OTFZ1hwUNI
RT @NatureJapan: 遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine https://t.co/kg6X7Ki19x #遺伝学 #ALS
遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine | Nature Portfolio - Nature Asia https://t.co/9QYO2Np0o5 @GoogleNewsより
Researchers at @NINDSnews identify a new form of #monogenic early-onset, severe #ALS, caused by a highly specific class of dominantly acting mutations that result in excess #sphingolipid synthesis. Great work from Carsten Bönnemann & team. #MND @NIH
Excess sphingolipids are associated with childhood #ALS.
RT @NatRevNeurol: A newly identified monogenic cause of early-onset amyotrophic lateral sclerosis https://t.co/JVJuRK7yaC
A newly identified monogenic cause of early-onset amyotrophic lateral sclerosis https://t.co/JVJuRK7yaC
遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine | Nature Portfolio https://t.co/ukUyheAurh
RT @MuseerSphinx: Sharing publication of a collaborative effort showing unregulated sphingolipid metabolism at the basis of a novel ALS for…
RT @NatureJapan: 遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine https://t.co/kg6X7Ki19x #遺伝学 #ALS
これは‼ 😳😳😳 治療薬開発&治療法確立の糸口になりますように。 👏🏻👏🏻🙏🏻
RT @NatureJapan: 遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine https://t.co/kg6X7Ki19x #遺伝学 #ALS
RT @NatureJapan: 遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine https://t.co/kg6X7Ki19x #遺伝学 #ALS
遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine https://t.co/kg6X7Ki19x #遺伝学 #ALS
RT @NatureAsia: Genetics: Causative gene for early-onset ALS identified | Nature Medicine https://t.co/uVaH8anoMy #Genetics #ALS
Genetics: Causative gene for early-onset ALS identified | Nature Medicine https://t.co/uVaH8anoMy #Genetics #ALS
RT @Matt_Muscle_Guy: Interesting new @NatureMedicine paper: Childhood amyotrophic lateral sclerosis caused by excess sphingolipid synthesis…
RT @UmZ1paZbmB6KpPV: 遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine | Nature Portfolio https://t.co/jPFO3OiYbc
遺伝学:早期発症型ALSの原因遺伝子が判明 | Nature Medicine | Nature Portfolio https://t.co/jPFO3OiYbc
Sharing publication of a collaborative effort showing unregulated sphingolipid metabolism at the basis of a novel ALS form. Kudos to all the patients and families for staying strong and contributing in promoting the science. https://t.co/sWR5Kvi4C3